Aliases & Classifications for Myopathy

Summaries for Myopathy

NINDS : 54 The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows:congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birthmuscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birthmitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRFglycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseasesmyoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseasesdermatomyositis: an inflammatory myopathy of skin and musclemyositis ossificans: characterized by bone growing in muscle tissuefamilial periodic paralysis: characterized by episodes of weakness in the arms and legspolymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscleneuromyotonia: characterized by alternating episodes of twitching and stiffness; andstiff-man syndrome:  characterized by episodes of rigidity and reflex spasmscommon muscle cramps and stiffness, andtetany:  characterized by prolonged spasms of the arms and legs

MalaCards based summary : Myopathy, also known as muscular diseases, is related to myopathy, congenital and centronuclear myopathy, and has symptoms including back pain, leg cramps and muscle cramp. An important gene associated with Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Integrin Pathway and Cardiac conduction. The drugs Lidocaine and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and bone, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A muscular disease in which the muscle fibers do not function resulting in muscular weakness.

Wikipedia : 76 Myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in... more...

Related Diseases for Myopathy

Diseases in the Myopathy family:

Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy, Congenital
Gne-Related Myopathy Benign Autosomal Dominant Myopathy

Diseases related to Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 830)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 35.9 ACTA1 DMD DNM2 MTM1 MYH7 NEB
2 centronuclear myopathy 35.8 DMD DNM2 MTM1 RYR1 TTN
3 myopathy, proximal, and ophthalmoplegia 35.7 COL6A1 COL6A2 EMD MYH2 RYR1
4 nemaline myopathy 35.7 ACTA1 NEB TPM2
5 bethlem myopathy 1 35.7 COL6A1 COL6A2 COL6A3 DMD
6 myopathy, tubular aggregate, 1 35.6 ACTA1 EMD RYR1
7 childhood-onset nemaline myopathy 35.5 ACTA1 NEB TPM2
8 reducing body myopathy 35.5 DMD NEB TTN
9 myopathy, centronuclear, x-linked 35.5 DNM2 MTM1
10 collagen vi-related myopathy 35.4 COL6A1 COL6A2 COL6A3
11 myopathy, congenital, with fiber-type disproportion 35.4 ACTA1 MYH7 RYR1
12 typical congenital nemaline myopathy 35.3 ACTA1 NEB TPM2
13 cap myopathy 35.3 ACTA1 TPM2
14 myopathy, myofibrillar, 2 35.3 ACTA1 DMD MYH7
15 rigid spine muscular dystrophy 1 35.3 ACTA1 COL6A2 DMD GAA MYH7 RYR1
16 myopathy, centronuclear, 1 35.2 DNM2 RYR1
17 myopathy, x-linked, with excessive autophagy 35.2 DMD EMD GAA
18 severe congenital nemaline myopathy 35.2 ACTA1 NEB
19 congenital fiber-type disproportion 35.2 ACTA1 DMD EMD MYH7 RYR1 TPM2
20 intermediate congenital nemaline myopathy 35.2 ACTA1 NEB
21 central core myopathy 35.2 MTM1 MYH7 RYR1
22 central core disease of muscle 34.9 GAA NEB RYR1
23 congenital structural myopathy 34.9 ACTA1 NEB RYR1 TPM2
24 distal muscular dystrophy 34.8 ANO5 DMD MYH7 TTN
25 ullrich congenital muscular dystrophy 1 34.5 COL6A1 COL6A2 COL6A3
26 brody myopathy 34.2 DMD RYR1
27 muscular dystrophy 34.1 ANO5 COL6A1 COL6A2 COL6A3 DMD EMD
28 muscular dystrophy, limb-girdle, type 2h 34.0 TRIM32 TTN
29 muscle disorders 33.7 COL6A1 COL6A2 COL6A3 RYR1
30 muscular dystrophy, limb-girdle, type 2b 33.4 DMD TRIM32 TTN
31 malignant hyperthermia 33.3 DMD RYR1 SCN4A
32 muscular dystrophy, congenital, lmna-related 33.1 COL6A1 COL6A2 EMD MYH2 TTN
33 muscular dystrophy, limb-girdle, type 2f 32.9 DMD TRIM32 TTN
34 limb-girdle muscular dystrophy 32.2 ANO5 DMD TRIM32 TTN
35 atrial standstill 1 31.7 DMD EMD GAA MYH7 TTN
36 ptosis 31.6 DNM2 MTM1 RYR1
37 distal arthrogryposis 31.6 ACTA1 RYR1 TPM2
38 neuromuscular disease 31.6 DMD EMD GAA MTM1 RYR1 SCN4A
39 arrhythmogenic right ventricular cardiomyopathy 31.5 DMD EMD RYR1 TTN
40 foot drop 31.1 ACTA1 NEB
41 familial periodic paralysis 30.7 RYR1 SCN4A
42 nemaline myopathy 3 12.4
43 nemaline myopathy 5 12.3
44 myopathy, lactic acidosis, and sideroblastic anemia 1 12.3
45 myopathy, centronuclear, 2 12.3
46 myosin storage myopathy 12.3
47 native american myopathy 12.3
48 nonaka myopathy 12.3
49 myopathy, distal, 1 12.2
50 myopathy, myofibrillar, 1 12.2

Comorbidity relations with Myopathy via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Deficiency Anemia Heart Disease
Hypertension, Essential Hypothyroidism
Respiratory Failure

Graphical network of the top 20 diseases related to Myopathy:



Diseases related to Myopathy

Symptoms & Phenotypes for Myopathy

UMLS symptoms related to Myopathy:


back pain, leg cramps, muscle cramp, muscle rigidity, muscle spasticity, myoclonus, sciatica, torticollis, muscle weakness, spasmodic torticollis, musculoskeletal symptom, myalgia, joint symptom

MGI Mouse Phenotypes related to Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 MTM1 NEB RYR1 SCN4A TRIM32 TTN
2 growth/size/body region MP:0005378 10.03 ACTA1 COL6A2 COL6A3 DMD DNM2 GAA
3 homeostasis/metabolism MP:0005376 9.93 TRIM32 TTN ACTA1 ANO5 DMD DNM2
4 muscle MP:0005369 9.83 ACTA1 ANO5 COL6A1 COL6A3 DMD DNM2
5 skeleton MP:0005390 9.23 ACTA1 COL6A3 DMD GAA MTM1 RYR1

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 766)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
2
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 9004-61-9 53477741
3
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 2216-51-5 16666
4
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
5
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
6
Ramipril Approved Phase 4 87333-19-5 5362129
7
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
8
Doxycycline Approved, Investigational, Vet_approved Phase 4,Not Applicable 564-25-0 54671203
9
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
10
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
11
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
12
Cortisone acetate Approved, Investigational Phase 4,Not Applicable 1950-04-4, 50-04-4 5745
13
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
14
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
15
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
16
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-48-6 2160
17
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1134-47-0 2284
18
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
19
Colchicine Approved Phase 4,Phase 3,Not Applicable 64-86-8 6167 2833
20
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
21
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 148553-50-8 5486971
22
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
23
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 124-94-7 31307
24
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Not Applicable 55-63-0 4510
25
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
26
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
27
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 525-66-6 4946
28
Citalopram Approved Phase 4,Not Applicable 59729-33-8 2771
29
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
30
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
31
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
32
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
33
Azathioprine Approved Phase 4,Not Applicable 446-86-6 2265
34
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 378-44-9 9782
35
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
36
Ethanol Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 64-17-5 702
37
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
38
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
39
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
40
Dinoprostone Approved Phase 4,Not Applicable 363-24-6 5280360
41
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1972-08-3 16078
42
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
43
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
44
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
45
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 56-12-2 119
46
Polidocanol Approved Phase 4,Phase 2 9002-92-0
47
Naproxen Approved, Vet_approved Phase 4,Not Applicable 22204-53-1 1302 156391
48
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
49
Mexiletine Approved, Investigational Phase 4,Phase 3,Phase 2 31828-71-4 4178
50
Sertraline Approved Phase 4 79617-96-2 68617

Interventional clinical trials:

(show top 50) (show all 2794)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
2 Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir Unknown status NCT01588912 Phase 4 Telbivudine;Tenofovir;Entecavir
3 Muscular Electrostimulation of the Sedated and Mechanically Ventilated Critically Ill Patient. Analysis of the Effect on Acquired Muscular Weakness and Its Clinical Consequences. Unknown status NCT02033057 Phase 4
4 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
5 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
6 A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
7 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
8 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
9 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
10 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
11 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
12 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
13 Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity Unknown status NCT02757404 Phase 4
14 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
15 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
16 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
17 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
18 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
19 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
20 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
21 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
22 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
23 Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
24 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
25 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
26 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
27 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
28 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
29 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
30 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
31 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
32 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
33 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
34 Two Different Dosages of Nebulized Steroid Versus Parenteral Steroid in the Management of COPD Exacerbations Completed NCT01865500 Phase 4 Budesonide 4 mg;Budesonide 8 mg;Metil prednisolone
35 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
36 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
37 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
38 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
39 Assessing the Role of "Statin" Therapy and Perioperative Inflammatory Response in Patients Undergoing Major Orthopedic Surgery Completed NCT00656292 Phase 4 Simvastatin;Placebo
40 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
41 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
42 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
43 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
44 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
45 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
46 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
47 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
48 Strengthening Exercises for Fibromyalgia Completed NCT02063750 Phase 4
49 Heart Rate Variability in Fibromyalgia - Effects of Strengthening Exercises Completed NCT02004405 Phase 4
50 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4

Search NIH Clinical Center for Myopathy

Cochrane evidence based reviews: muscular diseases

Genetic Tests for Myopathy

Genetic tests related to Myopathy:

# Genetic test Affiliating Genes
1 Myopathy 29

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

41
Skeletal Muscle, Testes, Bone, Heart, Brain, Spinal Cord, Skin

Publications for Myopathy

Articles related to Myopathy:

(show top 50) (show all 3489)
# Title Authors Year
1
Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites. ( 29950617 )
2018
2
Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy. ( 28969510 )
2018
3
Neurophysiological study of critical illness polyneuropathy and myopathy in mechanically ventilated children; additional aspects in paediatric critical illness comorbidities. ( 29604150 )
2018
4
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
5
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )
2018
6
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
7
Chronic kidney disease and acquired mitochondrial myopathy. ( 29266014 )
2018
8
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. ( 29848386 )
2018
9
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969 )
2018
10
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
11
Diagnostic Criteria of Pediatric Intestinal Myopathies. ( 28837505 )
2018
12
Over-representation of statin-associated necrotising myopathy in patients of Aboriginal and Torres Strait Islander heritage. ( 29898279 )
2018
13
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
14
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
15
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
16
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. ( 29932520 )
2018
17
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
18
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
19
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen. ( 29910095 )
2018
20
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. ( 29924655 )
2018
21
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
22
Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies. ( 29402601 )
2018
23
Dropped head syndrome with proximal myopathy revealing AL amyloidosis. ( 29653282 )
2018
24
Giant biventricular aneurysms: a novel cardiac phenotype in myotubular/centronuclear myopathy. ( 29668875 )
2018
25
18F-FDG PET/CT and MRI in Necrotizing Autoimmune Myopathy: "The Scarface Sign". ( 29261630 )
2018
26
Venous thromboembolic events in idiopathic inflammatory myopathy - occurrence and relation to disease onset. ( 29579357 )
2018
27
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
2018
28
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. ( 29391587 )
2018
29
The prevalence and clinical significance of anti-PUF60 antibodies in patients with idiopathic inflammatory myopathy. ( 29541951 )
2018
30
Correction: <i>Mortality in idiopathic inflammatory myopathy: results from a Swedish nationwide population-based cohort study</i>. ( 29650643 )
2018
31
Duplex signaling by CaM and Stac3 enhances Ca<sub>V</sub>1.1 function and provides insights into congenital myopathy. ( 29950399 )
2018
32
Use of 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in <i>Col4a1</i> mutant mice. ( 29895609 )
2018
33
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. ( 29356264 )
2018
34
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. ( 29500292 )
2018
35
A case of refractory acute sarcoid myopathy successfully treated with intravenous immunoglobulin. ( 29376470 )
2018
36
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. ( 29228135 )
2018
37
Anesthetic Management in Pediatric Patient for Percutaneous Endoscopic Gastrostomy with Mitochondrial Myopathy: Leigh Syndrome. ( 29628597 )
2018
38
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy. ( 29519717 )
2018
39
Myocarditis as a Form of Presentation of an Inflammatory Autoimmune Myopathy Associated With Anti-signal Recognition Particle Antibodies. ( 29970348 )
2018
40
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. ( 29858533 )
2018
41
ADAM-17 is expressed in the inflammatory myopathy and is involved with interstitial lung disease. ( 29411180 )
2018
42
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
43
Non-invasive differentiation of idiopathic inflammatory myopathy with cardiac involvement from acute viral myocarditis using cardiovascular magnetic resonance imaging T1 and T2 mapping. ( 29429407 )
2018
44
Autoantibodies to the survival of motor neuron complex in a patient with necrotizing autoimmune myopathy. ( 29088473 )
2018
45
Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy? ( 29182766 )
2018
46
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. ( 29905857 )
2018
47
TNNT1 nemaline myopathy: Natural history and therapeutic frontier. ( 29931346 )
2018
48
Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy. ( 29465616 )
2018
49
CPEO - Like mitochondrial myopathy associated with m.8340G&amp;gt;A mutation. ( 29501485 )
2018
50
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies. ( 29195113 )
2018