Aliases & Classifications for Myopathy

Summaries for Myopathy

NINDS : 50 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, congenital, and has symptoms including joint symptom, myalgia and musculoskeletal symptom. An important gene associated with Myopathy is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). The drugs Benzocaine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and testes, 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 : 72 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 841)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 35.0 ACTA1 NEB TPM2
2 myopathy, congenital 34.8 ACTA1 DMD MTM1 MYH7 NEB RYR1
3 myopathy, proximal, and ophthalmoplegia 34.7 COL6A1 COL6A2 MYH2 RYR1
4 bethlem myopathy 1 34.7 COL6A1 COL6A2 COL6A3 DMD SELENON
5 centronuclear myopathy 34.7 DMD MTM1 RYR1 TTN
6 myopathy, spheroid body 34.6 CRYAB MYH7 TTN VCP
7 cap myopathy 34.6 ACTA1 TPM2
8 reducing body myopathy 34.6 DMD NEB TTN
9 myopathy, congenital, with fiber-type disproportion 34.5 ACTA1 MYH7 RYR1 SELENON
10 childhood-onset nemaline myopathy 34.5 ACTA1 NEB TPM2
11 myofibrillar myopathy 34.5 CRYAB DMD TTN
12 myopathy, myofibrillar, 2 34.5 ACTA1 CRYAB DMD MYH7
13 severe congenital nemaline myopathy 34.4 ACTA1 NEB
14 typical congenital nemaline myopathy 34.4 ACTA1 NEB TPM2
15 brody myopathy 34.3 DMD RYR1
16 central core myopathy 34.3 MTM1 MYH7 RYR1 SELENON
17 intermediate congenital nemaline myopathy 34.3 ACTA1 NEB
18 rigid spine muscular dystrophy 1 34.3 ACTA1 COL6A2 DMD MYH7 SELENON TTN
19 myopathy, myofibrillar, 1 34.2 CRYAB SELENON
20 inclusion body myositis 34.2 GNE MYH2 VCP
21 congenital fiber-type disproportion 34.2 ACTA1 DMD MYH7 RYR1 SELENON TPM2
22 central core disease of muscle 34.1 NEB RYR1 SELENON
23 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.0 GNE VCP
24 congenital structural myopathy 33.9 ACTA1 NEB RYR1 SELENON TPM2
25 ullrich congenital muscular dystrophy 1 33.8 COL6A1 COL6A2 COL6A3 SELENON
26 distal muscular dystrophy 33.6 DMD GNE MYH7 TTN
27 multiminicore disease 33.6 RYR1 SELENON
28 myositis 33.4 DMD GNE TTN
29 muscular dystrophy, limb-girdle, type 2h 33.2 TRIM32 TTN
30 muscular dystrophy 32.8 COL6A1 COL6A2 COL6A3 DMD SELENON TRIM32
31 muscle disorders 32.8 COL6A1 COL6A2 COL6A3 RYR1 SELENON
32 muscular dystrophy, limb-girdle, type 2a 32.7 DMD TRIM32 TTN
33 malignant hyperthermia 32.5 DMD RYR1 SCN4A
34 muscular dystrophy, limb-girdle, type 2b 32.5 DMD TRIM32 TTN
35 muscular dystrophy, congenital, lmna-related 32.2 COL6A1 COL6A2 COL6A3 MYH2 SELENON
36 muscular dystrophy, limb-girdle, type 2f 31.9 DMD TRIM32 TTN
37 restrictive cardiomyopathy 31.1 CRYAB MYH7 TTN
38 limb-girdle muscular dystrophy 30.9 DMD TRIM32 TTN
39 distal arthrogryposis 30.9 ACTA1 MYH2 RYR1 TPM2
40 neuromuscular disease 30.6 DMD GNE MTM1 RYR1 SCN4A TTN
41 cardiac conduction defect 30.6 MYH7 RYR1
42 foot drop 30.3 ACTA1 NEB
43 arrhythmogenic right ventricular cardiomyopathy 30.3 DMD RYR1 TTN
44 familial periodic paralysis 30.2 RYR1 SCN4A
45 nemaline myopathy 3 12.4
46 myopathy, tubular aggregate, 1 12.3
47 nemaline myopathy 5 12.3
48 myopathy, centronuclear, x-linked 12.3
49 myopathy, centronuclear, 1 12.3
50 myosin storage myopathy 12.3

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:


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

MGI Mouse Phenotypes related to Myopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 NEB RYR1 ACTA1 SCN4A COL6A2 SELENON
2 growth/size/body region MP:0005378 9.93 NEB RYR1 ACTA1 SCN4A COL6A3 SELENON
3 muscle MP:0005369 9.83 NEB RYR1 ACTA1 SCN4A COL6A1 SELENON
4 skeleton MP:0005390 9.28 NEB RYR1 ACTA1 COL6A3 SELENON DMD

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 752)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-24-8 5755
6
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
7
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
8
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
9
Ramipril Approved Phase 4 87333-19-5 5362129
10
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
11
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
12
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2 60142-96-3 3446
13
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2 56-12-2 119
14
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
15
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
16
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 137-58-6 3676
17
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
18
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
19
Dinoprostone Approved Phase 4 363-24-6 5280360
20
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
21
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
22
Polidocanol Approved Phase 4,Phase 2 9002-92-0
23
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
24
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Phase 1 148553-50-8 5486971
25
Dopamine Approved Phase 4,Phase 3,Phase 2,Early Phase 1 51-61-6, 62-31-7 681
26
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
27
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Early Phase 1 103-90-2 1983
28
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
29
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1 15687-27-1 3672
30
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1 525-66-6 4946
31
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
32
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1 1134-47-0 2284
33
Azathioprine Approved Phase 4 446-86-6 2265
34
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2 378-44-9 9782
35
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 9004-61-9 53477741 24759
36
Colchicine Approved Phase 4 64-86-8 2833 6167
37
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 1972-08-3 16078 2978
38
Ethanol Approved Phase 4,Phase 3,Phase 1,Early Phase 1 64-17-5 702
39
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
40
Citalopram Approved Phase 4 59729-33-8 2771
41
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
42
Nitroglycerin Approved, Investigational Phase 4,Phase 2 55-63-0 4510
43
Cortisone acetate Approved, Investigational Phase 4 1950-04-4, 50-04-4 5745
44
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
45
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
46
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
47
Budesonide Approved Phase 4 51333-22-3 5281004 63006
48
Gemfibrozil Approved Phase 4 25812-30-0 3463
49
Goserelin Approved Phase 4 65807-02-5 5311128 47725
50
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2 15307-86-5 3033

Interventional clinical trials:

(show top 50) (show all 2662)

# 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 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
5 A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
6 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
7 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
8 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
9 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
10 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
11 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
12 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
13 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
14 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
15 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
16 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
17 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
18 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
19 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
20 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
21 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
22 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
23 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
24 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
25 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
26 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
27 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
28 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
29 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
30 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
31 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
32 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
33 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
34 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
35 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
36 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
37 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
38 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
39 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
40 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
41 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
42 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
43 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
44 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
45 Strengthening Exercises for Fibromyalgia Completed NCT02063750 Phase 4
46 Heart Rate Variability in Fibromyalgia - Effects of Strengthening Exercises Completed NCT02004405 Phase 4
47 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
48 Quetiapine Compared With Placebo in the Management of Fibromyalgia Completed NCT01458964 Phase 4 Quetiapine
49 Effect of Milnacipran on Pain in Fibromyalgia Completed NCT01288807 Phase 4 Milnacipram
50 Fixed Versus Flexible Dosing of Pregabalin in Patients With Fibromyalgia Completed NCT01226667 Phase 4 Pregabalin

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 28

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

38
Skeletal Muscle, Bone, Testes, Brain, Heart, Spinal Cord, Skin

Publications for Myopathy

Articles related to Myopathy:

(show top 50) (show all 3209)
# Title Authors Year
1
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. ( 29331079 )
2018
2
Autoimmune necrotising myopathy and HMGCR antibodies. ( 29439058 )
2018
3
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
4
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
5
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
6
Autoantibodies to the survival of motor neuron complex in a patient with necrotizing autoimmune myopathy. ( 29088473 )
2018
7
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
8
A case of refractory acute sarcoid myopathy successfully treated with intravenous immunoglobulin. ( 29376470 )
2018
9
Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy. ( 28969510 )
2018
10
Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy? ( 29182766 )
2018
11
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
12
Discordant manifestations in Italian brothers with GNE myopathy. ( 29406958 )
2018
13
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
2018
14
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. ( 29228108 )
2018
15
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy. ( 29336361 )
2018
16
A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy. ( 29403136 )
2018
17
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
18
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. ( 29356264 )
2018
19
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
20
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
21
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. ( 29228135 )
2018
22
18F-FDG PET/CT and MRI in Necrotizing Autoimmune Myopathy: "The Scarface Sign". ( 29261630 )
2018
23
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies. ( 29195113 )
2018
24
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
25
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). ( 29422440 )
2018
26
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. ( 28120463 )
2018
27
Early detection of myocardial involvement by T<sub>1</sub>mapping of cardiac MRI in idiopathic inflammatory myopathy. ( 29328539 )
2018
28
ADAM-17 is expressed in the inflammatory myopathy and is involved with interstitial lung disease. ( 29411180 )
2018
29
Polyneuropathy and myopathy in beta-thalassemia major patients. ( 29427184 )
2018
30
Tenotomy of the semitendinosus muscle under standing sedation versus general anesthesia: outcomes in 20 horses with fibrotic myopathy. ( 29437241 )
2018
31
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. ( 29406609 )
2018
32
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
33
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice. ( 29408998 )
2018
34
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
35
Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase autoantibody-positive necrotizing autoimmune myopathy with dermatomyositis-like eruption. ( 29346706 )
2018
36
Chronic kidney disease and acquired mitochondrial myopathy. ( 29266014 )
2018
37
Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy. ( 29420305 )
2018
38
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969 )
2018
39
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
40
Necrotizing autoimmune myopathy associated with POEMS syndrome report. ( 29088446 )
2018
41
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
42
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. ( 28716914 )
2017
43
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. ( 28831785 )
2017
44
Risk of Colchicine-Associated Myopathy in Gout: Influence of Concomitant Use of Statin; Methodologic Issues. ( 28927545 )
2017
45
Ro52/TRIM21-deficient expression and function in different subsets of peripheral blood mononuclear cells is associated with a proinflammatory cytokine response in patients with idiopathic inflammatory myopathies. ( 27936488 )
2017
46
A novel de novo dominant mutation in<i>ISCU</i>associated with mitochondrial myopathy. ( 29079705 )
2017
47
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. ( 28934386 )
2017
48
Acylcarnitines profile best predicts survival in horses with atypical myopathy. ( 28846683 )
2017
49
Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al. ( 28849578 )
2017
50
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene. ( 28070494 )
2017