MCID: MYP004
MIFTS: 63

Myopathy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

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 nemaline myopathy and myopathy, distal, 1, and has symptoms including muscle weakness, myoclonus and back pain. An important gene associated with Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Integrin Pathway and Cardiac conduction. The drugs Benzocaine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and heart, and related phenotypes are Decreased viability and Decreased viability

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 920)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 34.1 ACTA1 CFL2 NEB TNNT1 TPM2
2 myopathy, distal, 1 34.0 CFL2 MYH2 MYH7
3 cap myopathy 34.0 ACTA1 TPM2
4 myopathy, proximal, and ophthalmoplegia 33.9 COL6A1 COL6A2 MYH2 RYR1
5 childhood-onset nemaline myopathy 33.9 ACTA1 NEB TPM2
6 reducing body myopathy 33.9 DES NEB
7 bethlem myopathy 1 33.8 COL6A1 COL6A2 COL6A3 DYSF SELENON
8 severe congenital nemaline myopathy 33.8 ACTA1 NEB
9 myofibrillar myopathy 33.8 ACTA1 CRYAB DES LDB3 NEB
10 myopathy, myofibrillar, 1 33.8 CRYAB DES LDB3 SELENON
11 collagen vi-related myopathy 33.7 COL6A1 COL6A2 COL6A3
12 intermediate congenital nemaline myopathy 33.7 ACTA1 NEB
13 myopathy, spheroid body 33.7 CRYAB DES LDB3 MYH7 VCP
14 myopathy, myofibrillar, 2 33.6 ACTA1 CRYAB LDB3 MYH7
15 myopathy, congenital 33.6 ACTA1 DYSF MTM1 MYH7 NEB RYR1
16 inclusion body myositis 33.6 GNE MYH2 VCP
17 myopathy, congenital, with fiber-type disproportion 33.6 ACTA1 MYH7 RYR1 SELENON
18 typical congenital nemaline myopathy 33.6 ACTA1 CFL2 NEB TPM2
19 myopathy, myofibrillar, 4 33.6 AMPD1 LDB3
20 central core myopathy 33.3 MTM1 MYH7 RYR1 SELENON
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 33.3 GNE VCP
22 central core disease of muscle 33.3 DES NEB RYR1 SELENON
23 rigid spine muscular dystrophy 1 33.3 ACTA1 COL6A2 DYSF MYH7 RYR1 SELENON
24 miyoshi muscular dystrophy 33.2 DYSF GNE MYH2 MYH7
25 congenital fiber-type disproportion 33.0 ACTA1 CFL2 DYSF MYH7 RYR1 SELENON
26 ullrich congenital muscular dystrophy 1 33.0 COL6A1 COL6A2 COL6A3
27 multiminicore disease 32.8 RYR1 SELENON
28 congenital structural myopathy 32.6 ACTA1 CFL2 NEB RYR1 SELENON TNNT1
29 muscle disorders 32.3 COL6A1 COL6A2 COL6A3 RYR1 SELENON
30 muscular dystrophy 31.6 ACTA1 COL6A1 COL6A2 COL6A3 DES DYSF
31 muscular disease 31.3 ACTA1 COL6A1 COL6A2 COL6A3 DYSF GNE
32 muscular dystrophy, congenital, lmna-related 31.2 COL6A1 COL6A2 COL6A3 MYH2 SELENON
33 hypertrophic cardiomyopathy 30.6 DES LDB3 MYH7 TNNT1
34 dilated cardiomyopathy 30.4 CRYAB DES LDB3 MYH7 TNNT1
35 left ventricular noncompaction 30.3 DES LDB3 MYH7
36 restrictive cardiomyopathy 30.2 ACTA1 CRYAB DES MYH7 TNNT1
37 neuromuscular disease 30.0 AMPD1 DES GNE MTM1 RYR1
38 arrhythmogenic right ventricular cardiomyopathy 29.9 DES LDB3 MYH7 RYR1
39 foot drop 29.7 ACTA1 NEB
40 nemaline myopathy 3 12.6
41 nemaline myopathy 5 12.5
42 myopathy, tubular aggregate, 1 12.5
43 myopathy, centronuclear, x-linked 12.5
44 centronuclear myopathy 12.5
45 myopathy, centronuclear, 1 12.4
46 myopathy, congenital, bailey-bloch 12.4
47 nonaka myopathy 12.4
48 myopathy, centronuclear, 2 12.4
49 myopathy, lactic acidosis, and sideroblastic anemia 1 12.4
50 myosin storage myopathy 12.4

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:


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

GenomeRNAi Phenotypes related to Myopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.12 GNE
2 Decreased viability GR00221-A-3 10.12 GNE
3 Decreased viability GR00221-A-4 10.12 DYSF GNE
4 Decreased viability GR00301-A 10.12 DYSF
5 Decreased viability GR00381-A-1 10.12 COL6A2 LDB3 VCP
6 Decreased viability GR00381-A-3 10.12 COL6A2
7 Decreased viability GR00402-S-2 10.12 ACTA1 AMPD1 CFL2 COL6A1 COL6A2 COL6A3
8 no effect GR00402-S-1 9.62 ACTA1 AMPD1 CFL2 COL6A1 COL6A2 COL6A3

MGI Mouse Phenotypes related to Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ACTA1 CFL2 COL6A2 CRYAB DES DYSF
2 growth/size/body region MP:0005378 9.7 ACTA1 CFL2 COL6A2 COL6A3 GNE LDB3
3 muscle MP:0005369 9.55 ACTA1 AMPD1 CFL2 COL6A1 COL6A3 CRYAB

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 786)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3 tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
5
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
6
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 302-25-0
7
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
8
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2921-57-5
9
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
10
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 16590-41-3 5360515
11
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
12
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
13
Ramipril Approved Phase 4 87333-19-5 5362129
14
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
15
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-48-6 2160
16
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
17
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
18
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 56-12-2 119
19
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
20
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
21
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 124-94-7 31307
22
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
23
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
24
Dinoprostone Approved Phase 4,Not Applicable 363-24-6 5280360
25
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
26
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
27
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
28
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
30
Polidocanol Approved Phase 4,Phase 2 9002-92-0
31
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 148553-50-8 5486971
32
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
33
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
34
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
35
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
36
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
37
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 525-66-6 4946
38
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
39
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1134-47-0 2284
40
Azathioprine Approved Phase 4,Not Applicable 446-86-6 2265
41
Colchicine Approved Phase 4,Phase 3,Not Applicable 64-86-8 6167 2833
42
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 378-44-9 9782
43
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 9004-61-9 53477741
44
Ethanol Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 64-17-5 702
45
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1972-08-3 16078
46
Doxycycline Approved, Investigational, Vet_approved Phase 4,Not Applicable 564-25-0 54671203
47
Citalopram Approved Phase 4,Phase 3,Not Applicable 59729-33-8 2771
48
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
49
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
50
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Not Applicable 55-63-0 4510

Interventional clinical trials:

(show top 50) (show all 3066)
# 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 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
8 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
9 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
10 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
11 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
12 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
13 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
14 Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity Unknown status NCT02757404 Phase 4
15 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
16 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
17 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
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 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
21 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
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 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
29 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
30 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
31 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
32 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
33 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
34 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
35 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
36 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
37 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
38 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
39 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
40 Assessing the Role of "Statin" Therapy and Perioperative Inflammatory Response in Patients Undergoing Major Orthopedic Surgery Completed NCT00656292 Phase 4 Simvastatin;Placebo
41 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
42 Long Term Effectiveness of Trigger Finger Injections With Triamcinolone vs. Dexamethasone Completed NCT03641508 Phase 4 Triamcinolone;Dexamethasone
43 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
44 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
45 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
46 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
47 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
48 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
49 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
50 Strengthening Exercises for Fibromyalgia Completed NCT02063750 Phase 4

Search NIH Clinical Center for Myopathy

Cochrane evidence based reviews: muscular diseases

Genetic Tests for Myopathy

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

41
Skeletal Muscle, Bone, Heart, Testes, Brain, Lung, Skin

Publications for Myopathy

Articles related to Myopathy:

(show top 50) (show all 4492)
# Title Authors Year
1
Suspected capture myopathy in an alpaca (Vicugna pacos) following a dog attack. ( 30296388 )
2019
2
Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy. ( 30345336 )
2019
3
Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites. ( 29950617 )
2018
4
Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy. ( 28969510 )
2018
5
Neurophysiological study of critical illness polyneuropathy and myopathy in mechanically ventilated children; additional aspects in paediatric critical illness comorbidities. ( 29604150 )
2018
6
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
7
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )
2018
8
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
9
Chronic kidney disease and acquired mitochondrial myopathy. ( 29266014 )
2018
10
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. ( 29848386 )
2018
11
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969 )
2018
12
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
13
Over-representation of statin-associated necrotising myopathy in patients of Aboriginal and Torres Strait Islander heritage. ( 29898279 )
2018
14
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
15
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
16
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
17
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. ( 29932520 )
2018
18
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
19
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
20
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen. ( 29910095 )
2018
21
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. ( 29924655 )
2018
22
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
23
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
24
Dropped head syndrome with proximal myopathy revealing AL amyloidosis. ( 29653282 )
2018
25
Giant biventricular aneurysms: a novel cardiac phenotype in myotubular/centronuclear myopathy. ( 29668875 )
2018
26
18F-FDG PET/CT and MRI in Necrotizing Autoimmune Myopathy: "The Scarface Sign". ( 29261630 )
2018
27
Venous thromboembolic events in idiopathic inflammatory myopathy - occurrence and relation to disease onset. ( 29579357 )
2018
28
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
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