MYPOP
MCID: MYP139
MIFTS: 56

Myopathy, Proximal, and Ophthalmoplegia (MYPOP)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Proximal, and Ophthalmoplegia

MalaCards integrated aliases for Myopathy, Proximal, and Ophthalmoplegia:

Name: Myopathy, Proximal, and Ophthalmoplegia 57 74
Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles 57 74
Inclusion Body Myopathy 3, Autosomal Dominant 74 72
Proximal Myopathy and Ophthalmoplegia 57 74
Contracture 44 17
Mypop 57 74
Ibm3 59 74
Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome 59
Childhood-Onset Autosomal Recessive Myopathy with External Ophthalmoplegia 59
Inclusion Body Myopathy 3, Autosomal Dominant, Formerly; Ibm3, Formerly 57
Inclusion Body Myopathy 3, Autosomal Dominant, Formerly 57
Inclusion Body Myopathy, Autosomal Dominant 72
Hereditary Inclusion Body Myopathy Type 3 59
Inclusion Body Myopathy Type 3 59
Inclusion Body Myopathy 3 74
Ibm3, Formerly 57
Hibm3 59

Characteristics:

Orphanet epidemiological data:

59
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
variable age at onset
nonprogressive or very slowly progressive
contractures at birth or difficulties in the neonatal period resolve
relatively mild phenotype


HPO:

32
myopathy, proximal, and ophthalmoplegia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 605637
ICD10 via Orphanet 34 G71.2 G71.8
MedGen 42 C1854106
UMLS 72 C1854106 C2931820

Summaries for Myopathy, Proximal, and Ophthalmoplegia

OMIM : 57 Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). (605637)

MalaCards based summary : Myopathy, Proximal, and Ophthalmoplegia, also known as myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, is related to emery-dreifuss muscular dystrophy and emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including generalized muscle weakness and ophthalmoplegia. An important gene associated with Myopathy, Proximal, and Ophthalmoplegia is MYH2 (Myosin Heavy Chain 2), and among its related pathways/superpathways are G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins and miRNA targets in ECM and membrane receptors. The drugs Prednisolone phosphate and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and prostate, and related phenotypes are ptosis and scoliosis

UniProtKB/Swiss-Prot : 74 Myopathy, proximal, and ophthalmoplegia: A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.

Related Diseases for Myopathy, Proximal, and Ophthalmoplegia

Diseases related to Myopathy, Proximal, and Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1026)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 33.1 LMNA EMD
2 emery-dreifuss muscular dystrophy 1, x-linked 32.9 LMNA EMD
3 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.4 LMNA EMD COL6A2
4 bethlem myopathy 1 32.3 LMNA COL6A2 COL6A1
5 collagen vi-related myopathy 31.6 COL6A2 COL6A1
6 ullrich congenital muscular dystrophy 1 31.4 LMNA COL6A2 COL6A1
7 rigid spine muscular dystrophy 1 31.0 RYR1 COL6A2
8 myopathy, tubular aggregate, 1 30.9 RYR1 EMD
9 congenital fiber-type disproportion 30.3 RYR1 LMNA EMD
10 muscular dystrophy, congenital, lmna-related 30.2 MYH2 LMNA EMD COL6A2 COL6A1
11 autosomal dominant limb-girdle muscular dystrophy 29.5 LMNA EMD
12 neuromuscular disease 29.4 RYR1 LMNA EMD
13 atrial standstill 1 29.3 LMNA EMD
14 muscular dystrophy 28.3 RYR1 LMNA EMD COL6A2 COL6A1
15 myopathy 28.2 RYR1 MYH2 EMD COL6A2 COL6A1
16 muscular disease 26.6 RYR1 MYH2 LMNA EMD COL6A2 COL6A1
17 contractural arachnodactyly, congenital 12.7
18 lethal congenital contracture syndrome 1 12.7
19 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 12.7
20 lethal congenital contracture syndrome 2 12.6
21 dupuytren contracture 12.6
22 lethal congenital contracture syndrome 3 12.6
23 lethal congenital contracture syndrome 11 12.6
24 lethal congenital contracture syndrome 4 12.6
25 lethal congenital contracture syndrome 12.5
26 lethal congenital contracture syndrome 6 12.5
27 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.5
28 lethal congenital contracture syndrome 7 12.4
29 lethal congenital contracture syndrome 8 12.4
30 alopecia-contractures-dwarfism mental retardation syndrome 12.4
31 lethal congenital contracture syndrome 5 12.4
32 alopecia-contractures-dwarfism-intellectual disability syndrome 12.4
33 lethal congenital contracture syndrome 9 12.4
34 lethal congenital contracture syndrome 10 12.4
35 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.4
36 intellectual disability-developmental delay-contractures syndrome 12.4
37 volkmann contracture 12.4
38 hydrocephalus-cleft palate-joint contractures syndrome 12.3
39 contractures, pterygia, and variable skeletal fusions syndrome 1b 12.3
40 congenital contractures 12.3
41 contractures, pterygia, and variable skeletal fusions syndrome 1a 12.3
42 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism 12.2
43 bone fragility with contractures, arterial rupture, and deafness 12.2
44 restrictive dermopathy, lethal 12.2
45 contractures, congenital, torticollis, and malignant hyperthermia 12.2
46 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 12.2
47 contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 12.2
48 histiocytosis-lymphadenopathy plus syndrome 12.1
49 proteasome-associated autoinflammatory syndrome 1 12.1
50 wieacker-wolff syndrome 12.1

Graphical network of the top 20 diseases related to Myopathy, Proximal, and Ophthalmoplegia:



Diseases related to Myopathy, Proximal, and Ophthalmoplegia

Symptoms & Phenotypes for Myopathy, Proximal, and Ophthalmoplegia

Human phenotypes related to Myopathy, Proximal, and Ophthalmoplegia:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 scoliosis 32 occasional (7.5%) HP:0002650
3 waddling gait 32 occasional (7.5%) HP:0002515
4 scapular winging 32 occasional (7.5%) HP:0003691
5 distal muscle weakness 32 occasional (7.5%) HP:0002460
6 high palate 32 HP:0000218
7 myopathy 32 HP:0003198
8 generalized muscle weakness 32 HP:0003324
9 ophthalmoplegia 32 HP:0000602
10 proximal muscle weakness 32 HP:0003701
11 myopathic facies 32 HP:0002058
12 neck muscle weakness 32 HP:0000467
13 congenital contracture 32 HP:0002803
14 muscle fiber inclusion bodies 32 HP:0100299

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
upper and lower limbs affected
distal muscle weakness (in some patients)
muscle biopsy shows predominance of type 1 fibers
more
Head And Neck Neck:
neck muscle weakness

Skeletal Spine:
scoliosis (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Skeletal:
contractures at birth (in some patients)

Head And Neck Face:
myopathic facies

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
waddling gait (in some patients)

Head And Neck Eyes:
ptosis (in some patients)
ophthalmoplegia, external

Clinical features from OMIM:

605637

UMLS symptoms related to Myopathy, Proximal, and Ophthalmoplegia:


generalized muscle weakness, ophthalmoplegia

MGI Mouse Phenotypes related to Myopathy, Proximal, and Ophthalmoplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 COL6A1 EMD LMNA RYR1

Drugs & Therapeutics for Myopathy, Proximal, and Ophthalmoplegia

Drugs for Myopathy, Proximal, and Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
6
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
7 retinol Phase 4
8 Retinol palmitate Phase 4
9 incobotulinumtoxinA Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Neuromuscular Agents Phase 4
12 abobotulinumtoxinA Phase 4
13 Botulinum Toxins, Type A Phase 4
14 Gastrointestinal Agents Phase 4
15 Antiemetics Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Anti-Infective Agents Phase 4
18 Neuroprotective Agents Phase 4
19 Methylprednisolone Acetate Phase 4
20 Prednisolone acetate Phase 4
21 Antiviral Agents Phase 4
22 valacyclovir Phase 4
23
Dimethyl sulfoxide Approved, Vet_approved Phase 2, Phase 3 67-68-5 679
24
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
25
Petrolatum Approved, Investigational Phase 2, Phase 3 8009-03-8
26
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
27
Eplerenone Approved Phase 3 107724-20-9 150310 443872
28
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
29
Histamine Approved, Investigational Phase 3 51-45-6 774
30
Ketotifen Approved Phase 3 34580-13-7, 34580-14-8 3827
31
Miglustat Approved Phase 3 72599-27-0 51634
32
Acetaminophen Approved Phase 3 103-90-2 1983
33
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
34
Orphenadrine Approved Phase 3 83-98-7 4601
35
Caffeine Approved Phase 3 58-08-2 2519
36
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
37
1-Deoxynojirimycin Investigational Phase 3 19130-96-2 1374
38 Free Radical Scavengers Phase 2, Phase 3
39 Antioxidants Phase 2, Phase 3
40 Emollients Phase 3
41 triamcinolone acetonide Phase 3
42 Triamcinolone hexacetonide Phase 3
43 Triamcinolone diacetate Phase 3
44 Immunologic Factors Phase 3
45 Immunosuppressive Agents Phase 3
46 Calcium, Dietary Phase 3
47 Sodium Channel Blockers Phase 3
48 Diuretics, Potassium Sparing Phase 3
49 Mineralocorticoid Receptor Antagonists Phase 3
50 diuretics Phase 3

Interventional clinical trials:

(show top 50) (show all 258)
# Name Status NCT ID Phase Drugs
1 Use of Silicone Gel to Improve Retroauricular Scar in Microtia Patients Unknown status NCT02518035 Phase 4 Silicone Gel
2 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline
3 Ejaculatory Sparing vs. Non-ejaculatory Sparing GreenLightTM Laser Photoselective Vaporization of the Prostate (PVP): A Randomized Double Blind Sexual and Urodynamic Assessment Unknown status NCT02749604 Phase 4
4 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
5 MRI Results in Dupuytren's Contracture Before and After Injection With Xiaflex Completed NCT01450397 Phase 4
6 The Efficacy and Safety of Xiaflex Injections for the Treatment of Thumb Cords in Dupuytren's Contractures Completed NCT01265420 Phase 4
7 Retreatment of Recurrent Contractures in Joints Effectively Treated With AA4500 (Collagenase Clostridium Histolyticum [XIAFLEX®/XIAPEX®]) in an Auxilium-sponsored Phase 3 Study in the United States, Australia, and Europe Completed NCT01498640 Phase 4
8 Treatment of the PIP Joint Flexion Contracture: Combined Static and Dynamic Orthotic Intervention Compared With Traditional Combine Therapy. A Randomized Controlled Trial Completed NCT01914991 Phase 4
9 Conservative Treatment of Plantar Fasciitis With Dorsiflexion Night Splints and Medial Arch Supports: a Prospective Randomized Study Completed NCT00222911 Phase 4
10 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
11 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
12 A Multicentre Placebo-Controlled Evaluation of Prednisolone and/or Valaciclovir for the Treatment of Bell's Palsy Completed NCT00510263 Phase 4 Prednisolone + placebo;Valaciclovir + placebo;Prednisolone + valaciclovir;Placebo + placebo
13 A Double Blinded Randomized Controlled Trial to Compare the Efficacy, Time to Onset, and Duration of Two Botulinum Type A Exotoxins (Onabotulinum Toxin A and Abobotulinum Toxin A) in the Treatment of "Crow's Feet." Completed NCT01529788 Phase 4 Right lateral orbital injection of Botox Cosmetic or Dysport;Left lateral orbital injection of Botox Cosmetic or Dysport
14 Prospektiv Randomisert Sammenlikning Mellom Percutan nålefasciotomi og Xiapex for Dupuytrens Kontraktur Recruiting NCT02476461 Phase 4 xiapex
15 DupuytrEn Treatment EffeCtiveness Trial (DETECT): Prospective, Randomised, Controlled, Outcome Assessor-blinded, Three-armed Parallel 1:1:1, Multicenter Trial Comparing the Effectiveness and Cost of Collagenase Clostridium Histolyticum, Percutaneous Needle Fasciotomy and Limited Fasciectomy as Short-term and Long-term Treatment Strategies in Dupuytren's Contracture Recruiting NCT03192020 Phase 4 Collagenase Clostridium Histolyticum 2.9 MG/ML [Xiaflex]
16 Comparison of Collagenase Injection and Percutaneous Needle Aponeurotomy for Treatment of Dupuytren's Disease Recruiting NCT03000114 Phase 4 XIAFLEX
17 A Randomized Controlled Trial (RCT) Comparing Clostridium Histolyticum With Needle Aponeurotomy. Active, not recruiting NCT02647619 Phase 4 Xiapex
18 Effectiveness of Armeo Spring Pediatric in Children With Narakas I Obstetric Brachial Plexus Injury Active, not recruiting NCT03780322 Phase 4
19 Surgical Fasciectomy Versus Collagenase Injection in Treating Recurrent Dupuytren Disease: a Randomized Controlled Trial Enrolling by invitation NCT03406338 Phase 4 Collagenase Clostridium Histolyticum
20 A Post Market, Open-Label Study of the Safety and Efficacy of Delayed Manipulation After Xiaflex Treatment in Subjects With Dupuytren's Contracture Terminated NCT01226121 Phase 4
21 Dynamic and Static Splinting as a Treatment for Plantar Faciiopathy Terminated NCT01588730 Phase 4
22 The Use of an Acellular Dermal Matrix in a Two-Staged Breast Reconstruction The Use of an Acellular Dermal Matrix in a Two-Staged Breast Reconstruction After Mastectomy: A Double-Blinded, Randomized Trial Terminated NCT00616824 Phase 4
23 A Randomized, Controlled Trial of Autologous Platelet Gel Treatment in Diabetic Foot Ulcers Withdrawn NCT00338702 Phase 4
24 Stem Cells In Wound Healing With Collagen Matrix as a Carrier Withdrawn NCT02314416 Phase 4
25 DMSO for Prevention of Capsular Contraction in Alloplastic Breast Reconstruction Unknown status NCT02206477 Phase 2, Phase 3 Dimethyl Sulfoxide;Saline 0.9%
26 Silicone Gel Versus Onion Extract Gel as Prevention for Postsurgical Scars: a Randomized Controlled Trial Unknown status NCT01861119 Phase 3 Silicone gel Kelo-cort™;;Onion extract gel Contractubex™
27 Phase III Study of AK160 in Patients With Dupuytren's Contracture Completed NCT01588353 Phase 3 Collagenase Clostridium Histolyticum
28 A Phase 3, Double-Blind, Randomized, Placebo-Controlled Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Dupuytren's Contracture Completed NCT00528606 Phase 3
29 Double-blind, Randomized Placebo Controlled Study of the Relative Safety and Efficacy of Collagenase Therapy in the Treatment of Residual-type Dupuytren's Disease. Completed NCT00260429 Phase 3
30 Phase III Randomized Study of Collagenase in Patients With Residual Stage Dupuytren's Disease Completed NCT00014742 Phase 3 collagenase
31 The Effects of Steroid Injection With Percutaneous Needle Aponeurotomy in Patients With Dupuytren's Contracture: a Randomized Controlled Study Completed NCT00565019 Phase 3 Triamcinolone Acetonide
32 A Phase 3b Open-label, Historically-controlled Study to Assess the Safety and Efficacy of Two Concurrent Injections of AA4500 in Adult Subjects With Multiple Dupuytren's Contractures With Palpable Cords Completed NCT01674634 Phase 3
33 An Open-label Study to Assess the Safety and Efficacy of Concurrent Administration of Two Injections of AA4500 0.58 mg Into the Same Hand of Subjects With Multiple Dupuytren's Contractures Completed NCT01407068 Phase 3
34 Prospective Open-Label Investigation Of The Non-surgical Treatment With Collagenase Clostridium Histolyticum (Xiapex) Completed NCT01229436 Phase 3 Xiapex
35 A Phase 3, Open-Label Extension Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Advanced Dupuytren's Disease Completed NCT00528424 Phase 3
36 A Phase 3, Double-Blind, Randomized, Placebo-Controlled Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Advanced Dupuytren's Disease Followed by an Open-Label Extension Phase Completed NCT00533273 Phase 3
37 A Phase 3, Open-Label Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Advanced Dupuytren's Disease Completed NCT00528840 Phase 3
38 The Efficacy of Thai Traditional Massage in Decreasing Spasticity for Elderly With Stroke Completed NCT01448980 Phase 3
39 Evaluation of the Efficiency of Autologous Platelet Gel (Platelet Rich Fibrin) Obtained From Own Patients' Blood Versus Vaselitulle in Dupuytren's Disease Postoperative Wound Healing Completed NCT00931567 Phase 2, Phase 3
40 Safety and Efficacy of Botox Injection in Alleviating Post-Operative Pain and Improving Quality of Life in Lower Extremity Limb Lengthening and Deformity Correction Completed NCT00412035 Phase 3 Botulinum toxin A injection;saline injection
41 Study of the Efficacy of the Selective Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patient Following the ICF Model. A Prospective, Randomized, Controlled Single Blind Study Completed NCT00825097 Phase 3 Botulinum toxin injection
42 CPG Styles Study: A Study of the Safety of the Contour Profile Gel Breast Implants in Subjects Who Are Undergoing Primary Breast Augmentation, Primary Breast Reconstruction or Revision Completed NCT01959880 Phase 3
43 Core Gel Study of the Safety and Effectiveness of Mentor Round Low Bleed Silicone Gel-filled Mammary Prostheses in Patients Who Are Undergoing Primary Breast Augmentation, Primary Breast Reconstruction or Revision Completed NCT00753922 Phase 3
44 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
45 Study of the Safety and Effectiveness of Mentor Siltex® Contour Profile Gel Mammary Prostheses in Patients Who Are Undergoing Primary Breast Augmentation,Primary Breast Reconstruction or Revision Completed NCT00812097 Phase 3
46 Human Partial Facial Allotransplantation Completed NCT00663988 Phase 3
47 A Multi-Center, Randomized Controlled Trial Comparing The Clinical Effectiveness and Cost-Effectiveness of Collagenase Injection (Xiaflex) and Palmar Fasciectomy in the Management of Dupuytren's Disease Recruiting NCT02725528 Phase 3 collagenase injection
48 PrEvention of Posttraumatic Joint contractuRes With Ketotifen 2 Recruiting NCT03582176 Phase 3 Lactose Placebo;Ketotifen Fumarate 2mg;Ketotifen Fumarate 5mg
49 Efficacy and Safety of a Nanofat-seeded Biological Scaffold in Healing Lower Limb Surgical Defects: A Randomized, Controlled Study Recruiting NCT03548610 Phase 2, Phase 3
50 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat

Search NIH Clinical Center for Myopathy, Proximal, and Ophthalmoplegia

Cochrane evidence based reviews: contracture

Genetic Tests for Myopathy, Proximal, and Ophthalmoplegia

Anatomical Context for Myopathy, Proximal, and Ophthalmoplegia

MalaCards organs/tissues related to Myopathy, Proximal, and Ophthalmoplegia:

41
Breast, Skin, Prostate, Brain, Testes, Skeletal Muscle, Eye

Publications for Myopathy, Proximal, and Ophthalmoplegia

Articles related to Myopathy, Proximal, and Ophthalmoplegia:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. 9 8 71
11114175 2000
2
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations. 8 71
24193343 2014
3
MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. 8 71
23388406 2013
4
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies. 8 71
23489661 2013
5
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. 8 71
20418530 2010
6
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. 8 71
15548556 2005
7
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 71
25313375 2014
8
A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation. 71
16130113 2005
9
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. 71
11889243 2002
10
Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. 8
10205275 1999
11
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. 8
9708547 1998
12
The Myb-related protein MYPOP is a novel intrinsic host restriction factor of oncogenic human papillomaviruses. 38
30018400 2018
13
Genetic variations related to maternal whole blood mitochondrial DNA copy number: a genome-wide and candidate gene study. 38
27806667 2017
14
The MYpop toolbox: Putting yeast stress responses in cellular context on single cell and population scales. 38
26952199 2016
15
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. 9
20175956 2010
16
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 9
19807743 2009
17
[Skin graft procedures in burn surgery]. 9
19495713 2009
18
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. 9
18554282 2008
19
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. 9
18564801 2008
20
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 9
18041775 2007
21
Limb-girdle muscular dystrophy due to emerin gene mutations. 9
17620497 2007
22
Dual cardiac contractile effects of the alpha2-AMPK deletion in low-flow ischemia and reperfusion. 9
17337600 2007
23
[Emery-Dreifuss muscular dystrophy: case report]. 9
16791377 2006
24
Joint capsule matrix turnover in a rabbit model of chronic joint contractures: Correlation with human contractures. 9
16596651 2006
25
[The experimental study of mechanism of integrin in hypertrophic scar contracture]. 9
16573163 2006
26
High rate of joint capsule matrix turnover in chronic human elbow contractures. 9
16205164 2005
27
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. 9
16084089 2005
28
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. 9
15694138 2005
29
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 9
15563506 2005
30
Genetics of laminopathies. 9
15773749 2005
31
Nuclear membrane protein emerin: roles in gene regulation, actin dynamics and human disease. 9
15773747 2005
32
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 9
15523624 2004
33
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 9
12840783 2003
34
Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. 9
12151923 2002
35
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. 9
12011280 2002
36
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 9
11865138 2002
37
Novel mutations in the emerin gene in Israeli families. 9
11385714 2001
38
Cytokine manipulation of explanted Dupuytren's affected human palmar fascia. 9
12678125 2001
39
Emerin presence in platelets. 9
10965799 2000
40
[The effect of cytochrome c on the myocardium during reperfusion]. 9
10598459 1999
41
5-HT2 receptor antagonist-mediated inhibition of halothane-induced contractures in skeletal muscle specimens from malignant hyperthermia susceptible patients. 9
10551274 1999
42
Alteration of fetal oxygenation and responses to acute hypoxemia by increased myometrial contracture frequency produced by pulse administration of oxytocin to the pregnant ewe from 96 to 131 days' gestation. 9
10329878 1999
43
GABAB receptors are involved in the control of acute opiate withdrawal in isolated tissue. 9
10368870 1999
44
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. 9
9781539 1998
45
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. 9
9829276 1998
46
Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. 9
9590295 1998
47
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. 9
9334205 1997
48
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 9
8817344 1996
49
The role of hsp70 and IP3-DAG mechanism in the adaptive stabilization of structures and heart protection. 9
8762023 1996
50
Biomechanical properties of normal tendons, normal palmar aponeuroses and palmar aponeuroses from patients with Dupuytren's disease subjected to elastase and chondroitinase treatment. 9
15612326 1995

Variations for Myopathy, Proximal, and Ophthalmoplegia

ClinVar genetic disease variations for Myopathy, Proximal, and Ophthalmoplegia:

6 (show top 50) (show all 183)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYH2 NM_017534.6(MYH2): c.3331C> T (p.Gln1111Ter) single nucleotide variant Pathogenic rs758264018 17:10432502-10432502 17:10529185-10529185
2 MYH2 NM_017534.6(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 17:10438454-10438454 17:10535137-10535137
3 MYH2 NM_017534.6(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 17:10426471-10426471 17:10523154-10523154
4 MYH2 NM_017534.6(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 17:10446191-10446191 17:10542874-10542874
5 MYH2 NM_017534.6(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 17:10436696-10436696 17:10533379-10533379
6 MYH2 NM_017534.6(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 17:10438684-10438684 17:10535367-10535367
7 MYH2 NM_017534.6(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 17:10436638-10436638 17:10533321-10533321
8 MYH2 NM_017534.6(MYH2): c.2400del (p.Phe801fs) deletion Pathogenic rs879255254 17:10436643-10436643 17:10533326-10533326
9 MYH2 NM_017534.6(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 17:10447063-10447063 17:10543746-10543746
10 MYH2 NM_017534.6(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 17:10447417-10447417 17:10544100-10544100
11 MYH2 ; MYHAS NM_017534.6(MYH2): c.2377C> T (p.Arg793Ter) single nucleotide variant Pathogenic 17:10436666-10436666 17:10533349-10533349
12 MYH2 NM_017534.6(MYH2): c.3652C> T (p.Arg1218Ter) single nucleotide variant Pathogenic 17:10432099-10432099 17:10528782-10528782
13 MYH2 NM_017534.6(MYH2): c.3014del (p.Leu1005fs) deletion Pathogenic 17:10432984-10432984 17:10529667-10529667
14 MYH2 NM_017534.6(MYH2): c.2672dup (p.Asn891fs) duplication Pathogenic 17:10434975-10434975 17:10531658-10531658
15 MYH2 NM_017534.6(MYH2): c.4537C> T (p.Gln1513Ter) single nucleotide variant Pathogenic 17:10428768-10428768 17:10525451-10525451
16 MYH2 NM_017534.6(MYH2): c.4662+2T> G single nucleotide variant Likely pathogenic 17:10428539-10428539 17:10525222-10525222
17 MYH2 NM_017534.6(MYH2): c.741+1G> A single nucleotide variant Likely pathogenic 17:10447027-10447027 17:10543710-10543710
18 MYH2 NM_017534.6(MYH2): c.4537+1G> C single nucleotide variant Likely pathogenic 17:10428767-10428767 17:10525450-10525450
19 MYH2 NM_017534.6(MYH2): c.3460G> A (p.Glu1154Lys) single nucleotide variant Likely pathogenic 17:10432291-10432291 17:10528974-10528974
20 MYH2 NM_017534.6(MYH2): c.5673+1G> C single nucleotide variant Likely pathogenic 17:10426406-10426406 17:10523089-10523089
21 MYH2 NM_017534.6(MYH2): c.3002del (p.Glu1001fs) deletion Likely pathogenic rs797045096 17:10432996-10432996 17:10529679-10529679
22 MYH2 NM_017534.6(MYH2): c.2063-2A> T single nucleotide variant Likely pathogenic 17:10438509-10438509 17:10535192-10535192
23 MYH2 NM_017534.6(MYH2): c.2414T> C (p.Val805Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200662973 17:10436629-10436629 17:10533312-10533312
24 MYH2 NM_017534.6(MYH2): c.4774C> A (p.Leu1592Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138393827 17:10428271-10428271 17:10524954-10524954
25 MYH2 NM_017534.6(MYH2): c.3127T> G (p.Ser1043Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs11658164 17:10432789-10432789 17:10529472-10529472
26 MYH2 NM_017534.6(MYH2): c.5780G> A (p.Arg1927Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34161789 17:10424643-10424643 17:10521326-10521326
27 MYH2 NM_017534.6(MYH2): c.3000G> A (p.Lys1000=) single nucleotide variant Conflicting interpretations of pathogenicity rs573063758 17:10432998-10432998 17:10529681-10529681
28 MYH2 NM_017534.6(MYH2): c.3585G> A (p.Ala1195=) single nucleotide variant Conflicting interpretations of pathogenicity rs143988052 17:10432166-10432166 17:10528849-10528849
29 MYH2 NM_017534.6(MYH2): c.2908G> A (p.Val970Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143872329 17:10433181-10433181 17:10529864-10529864
30 MYH2 NM_017534.6(MYH2): c.332C> T (p.Ala111Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140468333 17:10450808-10450808 17:10547491-10547491
31 MYH2 NM_017534.6(MYH2): c.3128C> T (p.Ser1043Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200217946 17:10432788-10432788 17:10529471-10529471
32 MYH2 NM_017534.6(MYH2): c.1227C> T (p.Val409=) single nucleotide variant Conflicting interpretations of pathogenicity rs563146441 17:10442800-10442800 17:10539483-10539483
33 MYH2 NM_017534.6(MYH2): c.87T> C (p.Asn29=) single nucleotide variant Conflicting interpretations of pathogenicity rs148217318 17:10451151-10451151 17:10547834-10547834
34 MYH2 NM_017534.6(MYH2): c.2725G> T (p.Glu909Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs780124402 17:10433364-10433364 17:10530047-10530047
35 MYH2 NM_017534.6(MYH2): c.3709C> T (p.Leu1237Phe) single nucleotide variant Uncertain significance rs138265883 17:10432042-10432042 17:10528725-10528725
36 MYH2 NM_017534.6(MYH2): c.3358C> T (p.Arg1120Cys) single nucleotide variant Uncertain significance rs756255059 17:10432393-10432393 17:10529076-10529076
37 MYH2 NM_017534.6(MYH2): c.3029A> G (p.Gln1010Arg) single nucleotide variant Uncertain significance 17:10432969-10432969 17:10529652-10529652
38 MYH2 NM_017534.6(MYH2): c.986A> G (p.Gln329Arg) single nucleotide variant Uncertain significance 17:10443933-10443933 17:10540616-10540616
39 MYH2 NM_017534.6(MYH2): c.2654C> T (p.Thr885Met) single nucleotide variant Uncertain significance rs150566222 17:10434993-10434993 17:10531676-10531676
40 MYH2 NM_017534.6(MYH2): c.2626A> G (p.Arg876Gly) single nucleotide variant Uncertain significance rs201784718 17:10435021-10435021 17:10531704-10531704
41 MYH2 NM_017534.6(MYH2): c.3354+9_3354+10insATTGCAAGTAAGAC insertion Uncertain significance 17:10432469-10432470 17:10529152-10529153
42 MYH2 NM_017534.6(MYH2): c.3097C> A (p.Leu1033Ile) single nucleotide variant Uncertain significance 17:10432901-10432901 17:10529584-10529584
43 MYH2 NM_017534.6(MYH2): c.1507G> C (p.Glu503Gln) single nucleotide variant Uncertain significance 17:10441062-10441062 17:10537745-10537745
44 MYH2 NM_017534.6(MYH2): c.731C> T (p.Ser244Phe) single nucleotide variant Uncertain significance 17:10447038-10447038 17:10543721-10543721
45 MYH2 NM_017534.6(MYH2): c.5564A> G (p.Glu1855Gly) single nucleotide variant Uncertain significance rs200726747 17:10426638-10426638 17:10523321-10523321
46 MYH2 NM_017534.6(MYH2): c.5494G> A (p.Val1832Ile) single nucleotide variant Uncertain significance rs1462537897 17:10426708-10426708 17:10523391-10523391
47 MYH2 NM_017534.6(MYH2): c.2785A> T (p.Thr929Ser) single nucleotide variant Uncertain significance rs1555570593 17:10433304-10433304 17:10529987-10529987
48 MYH2 NM_017534.6(MYH2): c.2823G> T (p.Glu941Asp) single nucleotide variant Uncertain significance rs138206136 17:10433266-10433266 17:10529949-10529949
49 MYH2 NM_017534.6(MYH2): c.1879G> T (p.Ala627Ser) single nucleotide variant Uncertain significance rs778516827 17:10440568-10440568 17:10537251-10537251
50 MYH2 NM_017534.6(MYH2): c.5579C> G (p.Thr1860Arg) single nucleotide variant Uncertain significance rs148724880 17:10426501-10426501 17:10523184-10523184

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Proximal, and Ophthalmoplegia:

74
# Symbol AA change Variation ID SNP ID
1 MYH2 p.Glu706Lys VAR_032630 rs121434589

Expression for Myopathy, Proximal, and Ophthalmoplegia

Search GEO for disease gene expression data for Myopathy, Proximal, and Ophthalmoplegia.

Pathways for Myopathy, Proximal, and Ophthalmoplegia

Pathways related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 MYH2 COL6A2 COL6A1
2 10.79 COL6A2 COL6A1
3 10.52 COL6A2 COL6A1
4
Show member pathways
10.14 LMNA EMD

GO Terms for Myopathy, Proximal, and Ophthalmoplegia

Cellular components related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 RYR1 MYH2 COL6A2 COL6A1
2 collagen trimer GO:0005581 9.16 COL6A2 COL6A1
3 sarcolemma GO:0042383 8.8 RYR1 COL6A2 COL6A1

Biological processes related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.26 COL6A2 COL6A1
2 protein heterotrimerization GO:0070208 9.16 COL6A2 COL6A1
3 muscle contraction GO:0006936 9.13 RYR1 MYH2 EMD
4 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA EMD

Molecular functions related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL6A2 COL6A1

Sources for Myopathy, Proximal, and Ophthalmoplegia

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