MCID: MTC133
MIFTS: 54

Mitochondrial Myopathy

Categories: Metabolic diseases, Muscle diseases, Neuronal 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

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
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 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and myopathy, lactic acidosis, and sideroblastic anemia 1, and has symptoms including muscle weakness, myalgia and muscle rigidity. 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 Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, and related phenotypes are muscular hypotonia and muscle weakness

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 201)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.7 MT-ATP6 MT-CO2 MT-CO3 MT-ND4 MT-ND5 MT-TW
2 myopathy, lactic acidosis, and sideroblastic anemia 1 33.4 PUS1 YARS2
3 kearns-sayre syndrome 32.5 COX5A MT-ATP6 MT-CO2 MT-CYB MT-ND4 MT-ND5
4 mitochondrial complex iv deficiency 32.3 COX5A MT-CO2 MT-CO3 MT-ND4
5 mitochondrial disorders 32.2 COX5A DGUOK MT-ATP6 SLC25A4 TFAM
6 lactic acidosis 31.1 MT-ATP6 MT-CO3 MT-CYB MT-ND4 MT-ND5 PNPLA8
7 sideroblastic anemia 30.9 MT-ATP6 PUS1 YARS2
8 neuropathy 30.5 MT-ATP6 MT-ND4 MT-ND5 POLG
9 myoclonic epilepsy associated with ragged-red fibers 30.4 COX5A MT-ND4 MT-ND5 POLG TFAM
10 myopathy, lactic acidosis, and sideroblastic anemia 30.2 MT-ATP6 MT-CO3 MT-ND4 PUS1 YARS2
11 coenzyme q10 deficiency disease 29.9 POLG TK2
12 chronic progressive external ophthalmoplegia 29.9 COX5A MT-TA MT-TL2 POLG SLC25A4
13 leigh syndrome 29.3 COX5A MT-ATP6 MT-CO2 MT-CO3 MT-CYB MT-ND4
14 mitochondrial myopathy with lactic acidosis 12.6
15 mitochondrial myopathy, infantile, transient 12.5
16 mitochondrial myopathy, lethal, infantile 12.4
17 pure mitochondrial myopathy 12.3
18 mitochondrial myopathy with diabetes 12.2
19 mitochondrial myopathy with a defect in mitochondrial-protein transport 12.0
20 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.0
21 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.9
22 myopathy, isolated mitochondrial, autosomal dominant 11.9
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.5
24 myopathy, mitochondrial, and ataxia 11.2
25 myopathy 11.1
26 mitochondrial neurogastrointestinal encephalopathy disease 11.0
27 liver failure, infantile, transient 11.0
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.0
29 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 11.0
30 tmem70 defect 11.0
31 encephalopathy 10.7
32 muscle disorders 10.4
33 mitochondrial complex v deficiency, nuclear type 2 10.4
34 mitochondrial complex ii deficiency 10.4
35 focal segmental glomerulosclerosis 10.3
36 focal segmental glomerulosclerosis 1 10.3
37 pearson marrow-pancreas syndrome 10.3 MT-CO2 PUS1
38 sparganosis 10.3 MT-CYB MT-ND4
39 sideroblastic anemia acquired 10.3 MT-ATP6 MT-CO2
40 parkinson disease, mitochondrial 10.3 MT-ATP6 MT-CYB
41 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.3 POLG TK2
42 cardiomyopathy, infantile hypertrophic 10.2 MT-ATP6 MT-CO2 MT-CO3
43 parkinson disease 6, autosomal recessive early-onset 10.2 MT-CYB MT-ND5
44 mitochondrial dna depletion syndrome 10.2 DGUOK POLG TK2
45 myasthenic syndrome, congenital, 10 10.2 MT-CO2 MT-CYB
46 striatonigral degeneration, infantile, mitochondrial 10.2 MT-ATP6 MT-CO3 MT-ND4
47 striatonigral degeneration, infantile 10.2 MT-ATP6 MT-CO3 MT-ND4
48 mitochondrial dna depletion syndrome 2 10.2
49 mitochondrial phosphate carrier deficiency 10.2
50 mitochondrial dna depletion syndrome 5 10.2

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

H E E N T:
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 muscular hypotonia 32 HP:0001252
2 muscle weakness 32 HP:0001324
3 macroglossia 32 HP:0000158
4 hepatomegaly 32 HP:0002240
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 mitochondrial myopathy 32 HP:0003737
7 motor delay 32 HP:0001270
8 hyporeflexia 32 HP:0001265
9 generalized hypotonia 32 HP:0001290

UMLS symptoms related to Mitochondrial Myopathy:


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

Drugs & Therapeutics for Mitochondrial Myopathy

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
4
Idebenone Approved, Investigational Phase 2 58186-27-9
5 Lipid Regulating Agents Phase 2,Not Applicable
6 Antimetabolites Phase 2,Not Applicable
7 Hypolipidemic Agents Phase 2,Not Applicable
8 arginine Phase 2,Early Phase 1
9 Micronutrients Phase 2,Not Applicable
10 Antioxidants Phase 2,Not Applicable,Early Phase 1
11 Protective Agents Phase 2,Not Applicable,Early Phase 1
12 Trace Elements Phase 2,Not Applicable
13 Ubiquinone Phase 2
14
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
15
Resveratrol Approved, Experimental, Investigational Not Applicable 501-36-0 445154
16
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
17
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
18
Glycerol Approved, Investigational Not Applicable 56-81-5 753
19
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
20
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
21
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
22
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
23 Tocotrienol Investigational Not Applicable 6829-55-6
24 Vitamin B9 Not Applicable
25 Thioctic Acid Not Applicable
26 Vitamin B Complex Not Applicable
27 Vitamins Not Applicable
28 Alpha-lipoic Acid Not Applicable
29 Folate Not Applicable
30 pyruvate
31 Endothelium-Dependent Relaxing Factors Early Phase 1
32 Vasodilator Agents Early Phase 1,Not Applicable
33 Anti-Asthmatic Agents Early Phase 1
34 Neurotransmitter Agents Early Phase 1
35 Autonomic Agents Early Phase 1
36 Free Radical Scavengers Early Phase 1
37 Respiratory System Agents Early Phase 1
38 Peripheral Nervous System Agents Early Phase 1,Not Applicable
39 Bronchodilator Agents Early Phase 1
40 carnitine
41 Antirheumatic Agents Not Applicable
42 Analgesics, Non-Narcotic Not Applicable
43 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
44 Analgesics Not Applicable
45 Antineoplastic Agents, Phytogenic Not Applicable
46 Anti-Inflammatory Agents Not Applicable
47 Platelet Aggregation Inhibitors Not Applicable
48 Vitamin B3 Not Applicable
49 Nicotinic Acids Not Applicable
50 Soybean oil, phospholipid emulsion 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 Recruiting 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 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
14 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
15 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
16 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 Not Applicable thioctic acid
17 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy Completed NCT01301235
18 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
19 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
20 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
21 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565 Not Applicable
22 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
23 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
24 MRI Study - Chronic Progressive External Ophthalmoplegia Completed NCT02161848
25 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Recruiting NCT03513835
26 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders Recruiting NCT03728777 Not Applicable
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

Anatomical Context for Mitochondrial Myopathy

MalaCards organs/tissues related to Mitochondrial Myopathy:

41
Heart, Brain, Eye, Skeletal Muscle, Testes, Kidney, Liver

Publications for Mitochondrial Myopathy

Articles related to Mitochondrial Myopathy:

(show top 50) (show all 704)
# 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
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. ( 30026338 )
2018
15
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy. ( 30122554 )
2018
16
Modulation of the de novo purine nucleotide pathway as a therapeutic strategy in mitochondrial myopathy. ( 30267763 )
2018
17
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy. ( 30283818 )
2018
18
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis. ( 30309855 )
2018
19
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. ( 30452684 )
2018
20
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. ( 30455261 )
2018
21
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies. ( 29174468 )
2018
22
Understanding mitochondrial myopathies: a review. ( 29844960 )
2018
23
Muscle contractility of leg muscles in patients with mitochondrial myopathies. ( 30017555 )
2018
24
Diagnosis and Treatment of Mitochondrial Myopathies. ( 30406383 )
2018
25
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. ( 28823815 )
2017
26
A novel de novo dominant mutation in<i>ISCU</i>associated with mitochondrial myopathy. ( 29079705 )
2017
27
mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression. ( 28768179 )
2017
28
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 28637934 )
2017
29
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
30
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders. ( 29260009 )
2017
31
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
32
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. ( 28295037 )
2017
33
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in<i>RYR1</i>. ( 28547000 )
2017
34
Clevudine Induced Mitochondrial Myopathy. ( 28960041 )
2017
35
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
36
Gastro-intestinal Involvement in m.3243A&amp;gt;G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 29151541 )
2017
37
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. ( 28716914 )
2017
38
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
39
Affection of immune cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome. ( 28735506 )
2017
40
Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy. ( 28701185 )
2017
41
Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy. ( 28716227 )
2017
42
Use of Methohexital and Dexmedetomidine for Maintenance of Anesthesia in a Patient With Mitochondrial Myopathy: A Case Report. ( 27811495 )
2017
43
Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy. ( 28179228 )
2017
44
Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1. ( 28181352 )
2017
45
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. ( 28395030 )
2017
46
Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A. ( 28540185 )
2017
47
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. ( 29074296 )
2017
48
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761 )
2016
49
Combination of mitochondrial myopathy and biventricular hypertrabeculation/noncompaction. ( 26707596 )
2016
50
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016

Variations for Mitochondrial Myopathy

ClinVar genetic disease variations for Mitochondrial Myopathy:

6 (show all 22)
# 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 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh37 Chromosome 4, 186066174: 186066174
10 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh38 Chromosome 4, 185145020: 185145020
11 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh37 Chromosome MT, 5610: 5610
12 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh38 Chromosome MT, 5610: 5610
13 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh37 Chromosome MT, 5631: 5631
14 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh38 Chromosome MT, 5631: 5631
15 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh37 Chromosome 19, 19221599: 19221599
16 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh38 Chromosome 19, 19110790: 19110790
17 MT-ND6 NC_012920.1: m.14563C> T single nucleotide variant Uncertain significance rs1057516069 GRCh37 Chromosome MT, 14563: 14563
18 MT-ND6 NC_012920.1: m.14563C> T single nucleotide variant Uncertain significance rs1057516069 GRCh38 Chromosome MT, 14563: 14563
19 MT-CYB NC_012920.1: m.14854C> T single nucleotide variant Uncertain significance rs1057516071 GRCh37 Chromosome MT, 14854: 14854
20 MT-CYB NC_012920.1: m.14854C> T single nucleotide variant Uncertain significance rs1057516071 GRCh38 Chromosome MT, 14854: 14854
21 MT-CYB NC_012920.1: m.15096T> C single nucleotide variant Uncertain significance rs1057516073 GRCh37 Chromosome MT, 15096: 15096
22 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 9.72 DGUOK PUS1 TFAM TK2 YARS2
2 mitochondrial inner membrane GO:0005743 9.56 COX5A MT-ATP6 MT-CO2 MT-CO3 MT-CYB MT-ND4
3 mitochondrion GO:0005739 9.47 CHCHD10 COX5A DGUOK MT-CO2 MT-CO3 MT-CYB
4 respiratory chain GO:0070469 9.46 MT-CO2 MT-CYB MT-ND4 MT-ND5
5 mitochondrial respiratory chain complex IV GO:0005751 9.43 COX5A MT-CO2 MT-CO3
6 respiratory chain complex IV GO:0045277 9.37 MT-CO2 MT-CO3

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.61 COX5A MT-CO2 MT-CO3
2 DNA biosynthetic process GO:0071897 9.48 POLG TK2
3 ATP biosynthetic process GO:0006754 9.46 CHCHD10 MT-ATP6
4 respiratory electron transport chain GO:0022904 9.4 MT-CO3 MT-CYB
5 nucleotide biosynthetic process GO:0009165 9.37 DGUOK TK2
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.33 COX5A MT-CO2 MT-CO3
7 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.32 DGUOK TK2
8 electron transport coupled proton transport GO:0015990 9.26 MT-CYB MT-ND4
9 response to hyperoxia GO:0055093 9.13 MT-ATP6 MT-CYB POLG
10 ATP synthesis coupled electron transport GO:0042773 8.8 MT-CO2 MT-ND4 MT-ND5

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.5 COX5A MT-CO3 MT-CYB
2 NADH dehydrogenase activity GO:0003954 9.26 MT-ND4 MT-ND5
3 nucleoside kinase activity GO:0019206 9.16 DGUOK TK2
4 deoxynucleoside kinase activity GO:0019136 8.96 DGUOK TK2
5 cytochrome-c oxidase activity GO:0004129 8.8 COX5A 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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