MCID: MTC133
MIFTS: 54

Mitochondrial Myopathy

Categories: Muscle diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Myopathy

MalaCards integrated aliases for Mitochondrial Myopathy:

Name: Mitochondrial Myopathy 57 12 29 6 15
Mitochondrial Myopathies 44 73
Mitochondrial Cytopathy 12 73
Myopathy, Mitochondrial 40

Characteristics:

OMIM:

57
Inheritance:
defective mitochondrial genes vs. autosomal dominant or autosomal recessive


Classifications:



External Ids:

OMIM 57 251900
Disease Ontology 12 DOID:699
MeSH 44 D017240
NCIt 50 C101328
SNOMED-CT 68 16851005 240096000
MedGen 42 C0162670

Summaries for Mitochondrial Myopathy

NINDS : 54 Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.

MalaCards based summary : Mitochondrial Myopathy, also known as mitochondrial myopathies, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Mitochondrial Myopathy is MT-TW (Mitochondrially Encoded TRNA Tryptophan), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Vaccines and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and brain, and related phenotypes are macroglossia and muscular hypotonia

Disease Ontology : 12 A myopathy that is characterized by mitochondrial dysfunction.

Wikipedia : 76 Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the... more...

Description from OMIM: 251900

Related Diseases for Mitochondrial Myopathy

Diseases in the Mitochondrial Myopathy family:

Mitochondrial Myopathy, Infantile, Transient

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

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 34.3 PUS1 YARS2
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.7 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND4 MT-ND5
3 mitochondrial complex iv deficiency 32.7 COX5A MT-CO1 MT-CO2 MT-CO3
4 kearns-sayre syndrome 31.7 COX5A MT-ATP6 MT-CO1 MT-CO2 MT-CYB MT-ND4
5 sideroblastic anemia 31.3 MT-ATP6 MT-CO1 PUS1 YARS2
6 encephalomyopathy 30.8 MT-CYB MT-ND4 MT-ND5
7 myoclonic epilepsy associated with ragged-red fibers 30.7 COX5A MT-ND4 MT-ND5 POLG
8 myopathy, lactic acidosis, and sideroblastic anemia 30.4 MT-ATP6 MT-CO3 MT-ND4 PUS1 YARS2
9 lactic acidosis 30.3 MT-ATP6 MT-CO3 MT-CYB MT-ND4 MT-ND5 PNPLA8
10 myopathy 29.0 CHCHD10 DGUOK MT-ATP6 MT-CO1 MT-CO2 MT-CO3
11 chronic progressive external ophthalmoplegia 28.5 COX5A MT-TA MT-TL2 POLG SLC25A4
12 leigh syndrome 27.9 COX5A MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB
13 mitochondrial disorders 26.5 COX5A DGUOK MT-ATP6 MT-CO2 MT-ND4 MT-ND5
14 mitochondrial myopathy with lactic acidosis 12.5
15 mitochondrial myopathy, infantile, transient 12.4
16 mitochondrial myopathy, lethal, infantile 12.1
17 pure mitochondrial myopathy 12.1
18 mitochondrial myopathy with diabetes 12.0
19 mitochondrial myopathy with a defect in mitochondrial-protein transport 11.9
20 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 11.9
21 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.8
22 myopathy, isolated mitochondrial, autosomal dominant 11.8
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.4
24 myopathy, mitochondrial, and ataxia 11.0
25 genetic recurrent myoglobinuria 11.0 MT-CO1 MT-CO3
26 pearson marrow-pancreas syndrome 10.9 MT-CO2 PUS1
27 mitochondrial neurogastrointestinal encephalopathy disease 10.9
28 acquired idiopathic sideroblastic anemia 10.9 COX5A MT-CO1
29 liver failure, infantile, transient 10.9
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 10.9
31 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 10.9
32 deafness, aminoglycoside-induced 10.9 MT-CO1 MT-ND4
33 myiasis 10.9 MT-CO1 MT-ND5
34 sideroblastic anemia acquired 10.8 MT-ATP6 MT-CO1 MT-CO2
35 sparganosis 10.8 MT-CO1 MT-CYB MT-ND4
36 amelogenesis imperfecta, type iv 10.8 MT-CO1 MT-CYB
37 parkinson disease 6, autosomal recessive early-onset 10.8 MT-CYB MT-ND5
38 parasitic protozoa infectious disease 10.8 MT-CO1 MT-CO2 MT-CYB
39 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.8 POLG TK2
40 cardiomyopathy, infantile hypertrophic 10.8 MT-ATP6 MT-CO2 MT-CO3
41 myoglobinuria, recurrent 10.8 COX5A MT-CO1 MT-CO2
42 epilepsy, familial temporal lobe, 2 10.8 MT-CO1 MT-CO3
43 striatonigral degeneration, infantile, mitochondrial 10.8 MT-ATP6 MT-CO3 MT-ND4
44 myopathy, lactic acidosis, and sideroblastic anemia 3 10.7 MT-ATP6 MT-CO3 MT-ND4
45 coenzyme q10 deficiency disease 10.7 POLG TK2
46 striatonigral degeneration, infantile 10.7 MT-ATP6 MT-CO3 MT-ND4
47 ataxia and polyneuropathy, adult-onset 10.7 MT-ATP6 MT-CO3 MT-ND4
48 myasthenic syndrome, congenital, 10 10.7 MT-CO1 MT-CYB
49 mitochondrial dna depletion syndrome 4a 10.6 DGUOK POLG
50 cranial nerve disease 10.6 MT-ND4 MT-ND5 POLG

Graphical network of the top 20 diseases related to Mitochondrial Myopathy:



Diseases related to Mitochondrial Myopathy

Symptoms & Phenotypes for Mitochondrial Myopathy

Symptoms via clinical synopsis from OMIM:

57
Muscle:
muscle weakness
progressive muscle fatigability

Abdomen:
hepatomegaly

Lab:
unusually large mitochondria with increased oxidative enzymes and neutral fat on muscle biopsy
muscle mitochondria contain anomalous quadrilaminar structures
elevated muscle enzymes in serum

HEENT:
macroglossia

Neuro:
hyporeflexia
hypotonia
delayed motor development


Clinical features from OMIM:

251900

Human phenotypes related to Mitochondrial Myopathy:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 muscular hypotonia 32 HP:0001252
3 hyporeflexia 32 HP:0001265
4 motor delay 32 HP:0001270
5 generalized hypotonia 32 HP:0001290
6 muscle weakness 32 HP:0001324
7 abnormality of metabolism/homeostasis 32 HP:0001939
8 hepatomegaly 32 HP:0002240
9 mitochondrial myopathy 32 HP:0003737

UMLS symptoms related to Mitochondrial Myopathy:


muscle cramp, muscle rigidity, muscle spasticity, muscle weakness, myalgia

Drugs & Therapeutics for Mitochondrial Myopathy

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
3
Idebenone Approved, Investigational Phase 2 58186-27-9
4
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
rituximab Approved Phase 2 174722-31-7 10201696
10
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
11
Tocopherol Approved, Investigational, Nutraceutical Phase 2,Not Applicable 1406-66-2 14986
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2,Not Applicable 59-02-9 14985
13 Antimetabolites Phase 2
14 Hypolipidemic Agents Phase 2
15 Lipid Regulating Agents Phase 2
16 Antioxidants Phase 2,Not Applicable,Early Phase 1
17 Micronutrients Phase 2,Not Applicable
18 Protective Agents Phase 2,Not Applicable,Early Phase 1
19 Trace Elements Phase 2,Not Applicable
20 Ubiquinone Phase 2
21 Thioctic Acid Phase 2,Not Applicable
22 Vitamins Phase 2,Not Applicable
23 Alkylating Agents Phase 2
24 Antilymphocyte Serum Phase 2
25 Antimetabolites, Antineoplastic Phase 2
26 Antineoplastic Agents, Alkylating Phase 2
27 Immunosuppressive Agents Phase 2
28 N-monoacetylcystine Phase 2
29 Tocopherols Phase 2,Not Applicable
30 Tocotrienols Phase 2,Not Applicable
31 arginine Nutraceutical Phase 2,Early Phase 1
32 Alpha-lipoic Acid Nutraceutical Phase 2,Not Applicable
33 Tocotrienol Investigational, Nutraceutical Phase 2,Not Applicable 6829-55-6
34
Nitric Oxide Approved Early Phase 1 10102-43-9 145068 160954
35
Glycerol Approved, Investigational Not Applicable 56-81-5 753
36
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
37
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
38 Vitamin B Complex Not Applicable
39 Anti-Asthmatic Agents Early Phase 1
40 Autonomic Agents Early Phase 1
41 Bronchodilator Agents Early Phase 1
42 Endothelium-Dependent Relaxing Factors Early Phase 1
43 Neurotransmitter Agents Early Phase 1
44 Peripheral Nervous System Agents Early Phase 1
45 Respiratory System Agents Early Phase 1
46 Vasodilator Agents Early Phase 1
47 Anticoagulants Not Applicable
48 calcium heparin Not Applicable
49 Calcium, Dietary Not Applicable
50 Fat Emulsions, Intravenous Not Applicable

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 A Trial to Evaluate the Safety and Efficacy of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Extension Enrolling by invitation NCT03323749 Phase 3
3 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease Unknown status NCT00457314 Phase 2
4 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
5 RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR Completed NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, TBD mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
6 A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
7 A Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
8 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
9 A Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Mitochondrial Disease Previously Treated in the Stealth BioTherapeutics SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
10 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
11 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
12 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
13 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
14 Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Enrolling by invitation NCT02976038 Phase 2 elamipretide
15 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers Completed NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
16 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
17 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 Not Applicable thioctic acid
18 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy Completed NCT01301235
19 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
20 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
21 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
22 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565 Not Applicable
23 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
24 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
25 MRI Study - Chronic Progressive External Ophthalmoplegia Completed NCT02161848
26 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Recruiting NCT03513835
27 Oxidative Capacity and Exercise Tolerance in Ambulatory SMA Recruiting NCT02895789
28 Study of Inherited Neurological Disorders Recruiting NCT00004568
29 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871 Not Applicable
30 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
31 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
32 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
33 Natural History Study - Mitochondrial Disease Recruiting NCT01532791
34 The Leigh Syndrome Registry Recruiting NCT03137355
35 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
36 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
37 An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300) Active, not recruiting NCT03048617
38 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
39 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112 Not Applicable

Search NIH Clinical Center for Mitochondrial Myopathy

Cochrane evidence based reviews: mitochondrial myopathies

Genetic Tests for Mitochondrial Myopathy

Genetic tests related to Mitochondrial Myopathy:

# Genetic test Affiliating Genes
1 Mitochondrial Myopathy 29 MT-TW

Anatomical Context for Mitochondrial Myopathy

MalaCards organs/tissues related to Mitochondrial Myopathy:

41
Heart, Eye, Brain, Testes, Skeletal Muscle, Smooth Muscle, Lung

Publications for Mitochondrial Myopathy

Articles related to Mitochondrial Myopathy:

(show top 50) (show all 256)
# Title Authors Year
1
Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy. ( 28969510 )
2018
2
Chronic kidney disease and acquired mitochondrial myopathy. ( 29266014 )
2018
3
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. ( 29932520 )
2018
4
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
2018
5
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. ( 29500292 )
2018
6
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. ( 29228135 )
2018
7
Anesthetic Management in Pediatric Patient for Percutaneous Endoscopic Gastrostomy with Mitochondrial Myopathy: Leigh Syndrome. ( 29628597 )
2018
8
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy. ( 29519717 )
2018
9
CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation. ( 29501485 )
2018
10
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). ( 29471047 )
2018
11
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. ( 29610236 )
2018
12
Telbivudine associated mitochondrial myopathy. ( 29570939 )
2018
13
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. ( 29228108 )
2018
14
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. ( 28823815 )
2017
15
A novel de novo dominant mutation in<i>ISCU</i>associated with mitochondrial myopathy. ( 29079705 )
2017
16
mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression. ( 28768179 )
2017
17
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 28637934 )
2017
18
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes. ( 28050007 )
2017
19
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders. ( 29260009 )
2017
20
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T&amp;gt;C ND3 Mutation with a Normal Muscle Biopsy. ( 28883258 )
2017
21
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. ( 28295037 )
2017
22
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in<i>RYR1</i>. ( 28547000 )
2017
23
Clevudine Induced Mitochondrial Myopathy. ( 28960041 )
2017
24
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T&amp;gt;C ND3 Mutation with a Normal Muscle Biopsy. ( 28883250 )
2017
25
Gastro-intestinal Involvement in m.3243A&amp;gt;G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 29151541 )
2017
26
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. ( 28716914 )
2017
27
Reply to the letter by Finsterer et al. concerning the paper: &amp;quot;Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome&amp;quot; by Galassi G. et al. ( 28849578 )
2017
28
Affection of immune cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome. ( 28735506 )
2017
29
Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy. ( 28701185 )
2017
30
Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy. ( 28716227 )
2017
31
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. ( 28395030 )
2017
32
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761 )
2016
33
Combination of mitochondrial myopathy and biventricular hypertrabeculation/noncompaction. ( 26707596 )
2016
34
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
35
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice. ( 26923168 )
2016
36
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. ( 27506553 )
2016
37
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 26960270 )
2016
38
Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 26112726 )
2015
39
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. ( 25732997 )
2015
40
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy. ( 26374844 )
2015
41
Cranial and Cervical Muscular Weakness in Mitochondrial Myopathy Is Associated With Resolution of Migraine Headaches: Further Evidence That Muscular Compression of Cranial and Peripheral Nerves Is a Cause of Headache in a Subset of Patients With Migraine. ( 26171092 )
2015
42
MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. ( 26200388 )
2015
43
Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome. ( 26904705 )
2015
44
Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy. ( 26001801 )
2015
45
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis. ( 26469001 )
2015
46
A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy. ( 26359855 )
2015
47
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. ( 26541337 )
2015
48
Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine Kinase-emia. ( 26666615 )
2015
49
Mitochondrial myopathy and comorbid major depressive disorder: effectiveness of dTMS on gait and mood symptoms. ( 25799088 )
2015
50
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. ( 25193783 )
2015

Variations for Mitochondrial Myopathy

ClinVar genetic disease variations for Mitochondrial Myopathy:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TW m.5521G> A single nucleotide variant Pathogenic rs199474673 GRCh37 Chromosome MT, 5521: 5521
2 MT-TW m.5521G> A single nucleotide variant Pathogenic rs199474673 GRCh38 Chromosome MT, 5521: 5521
3 MT-TM m.4409T> C single nucleotide variant Pathogenic rs118203884 GRCh37 Chromosome MT, 4409: 4409
4 MT-TM m.4409T> C single nucleotide variant Pathogenic rs118203884 GRCh38 Chromosome MT, 4409: 4409
5 MT-TL2 m.12320A> G single nucleotide variant Pathogenic rs121434463 GRCh37 Chromosome MT, 12320: 12320
6 MT-TL2 m.12320A> G single nucleotide variant Pathogenic rs121434463 GRCh38 Chromosome MT, 12320: 12320
7 MT-TA m.5591G> A single nucleotide variant Pathogenic rs121434458 GRCh37 Chromosome MT, 5591: 5591
8 MT-TA m.5591G> A single nucleotide variant Pathogenic rs121434458 GRCh38 Chromosome MT, 5591: 5591
9 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh37 Chromosome MT, 5610: 5610
10 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh38 Chromosome MT, 5610: 5610
11 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh37 Chromosome MT, 5631: 5631
12 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh38 Chromosome MT, 5631: 5631
13 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh37 Chromosome 19, 19221599: 19221599
14 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh38 Chromosome 19, 19110790: 19110790
15 MT-CYB NC_012920.1: m.15096T> C single nucleotide variant Uncertain significance rs1057516073 GRCh37 Chromosome MT, 15096: 15096
16 MT-CYB NC_012920.1: m.15096T> C single nucleotide variant Uncertain significance rs1057516073 GRCh38 Chromosome MT, 15096: 15096

Expression for Mitochondrial Myopathy

Search GEO for disease gene expression data for Mitochondrial Myopathy.

Pathways for Mitochondrial Myopathy

GO Terms for Mitochondrial Myopathy

Cellular components related to Mitochondrial Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.71 DGUOK PUS1 TK2 YARS2
2 mitochondrial inner membrane GO:0005743 9.61 COX5A MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB
3 mitochondrial respiratory chain complex IV GO:0005751 9.56 COX5A MT-CO1 MT-CO2 MT-CO3
4 respiratory chain GO:0070469 9.55 MT-CO1 MT-CO2 MT-CYB MT-ND4 MT-ND5
5 respiratory chain complex IV GO:0045277 9.5 MT-CO1 MT-CO2 MT-CO3
6 mitochondrion GO:0005739 9.47 CHCHD10 COX5A DGUOK MT-CO1 MT-CO2 MT-CO3
7 mitochondrial respiratory chain complex III GO:0005750 9.37 MT-CO1 MT-CYB

Biological processes related to Mitochondrial Myopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 MT-CO1 MT-CO2 MT-CYB MT-ND4 MT-ND5
2 aging GO:0007568 9.76 MT-ATP6 MT-CO1 MT-ND4 POLG
3 electron transport chain GO:0022900 9.67 COX5A MT-CO1 MT-CO2
4 proton transmembrane transport GO:1902600 9.67 COX5A MT-CO1 MT-CO2 MT-CO3
5 aerobic respiration GO:0009060 9.58 MT-CO1 MT-CO3 MT-ND4
6 ATP biosynthetic process GO:0006754 9.55 CHCHD10 MT-ATP6
7 response to copper ion GO:0046688 9.52 MT-CO1 MT-CYB
8 nucleotide biosynthetic process GO:0009165 9.51 DGUOK TK2
9 respiratory electron transport chain GO:0022904 9.5 MT-CO1 MT-CO3 MT-CYB
10 oxidative phosphorylation GO:0006119 9.48 CHCHD10 MT-CO1
11 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.43 DGUOK TK2
12 response to hyperoxia GO:0055093 9.43 MT-ATP6 MT-CYB POLG
13 ATP synthesis coupled electron transport GO:0042773 9.33 MT-CO2 MT-ND4 MT-ND5
14 electron transport coupled proton transport GO:0015990 9.13 MT-CO1 MT-CYB MT-ND4
15 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.92 COX5A MT-CO1 MT-CO2 MT-CO3

Molecular functions related to Mitochondrial Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 MT-CO1 MT-CO2 MT-CYB MT-ND4 MT-ND5
2 NADH dehydrogenase activity GO:0003954 9.26 MT-ND4 MT-ND5
3 electron transfer activity GO:0009055 9.26 COX5A MT-CO1 MT-CO3 MT-CYB
4 nucleoside kinase activity GO:0019206 9.16 DGUOK TK2
5 cytochrome-c oxidase activity GO:0004129 8.92 COX5A MT-CO1 MT-CO2 MT-CO3

Sources for Mitochondrial Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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