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MCID: MTC133
MIFTS: 49

Mitochondrial Myopathy

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mitochondrial Myopathy

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MalaCards integrated aliases for Mitochondrial Myopathy:

Name: Mitochondrial Myopathy 12 58 29 6 15
Mitochondrial Myopathies 43 71
Mitochondrial Cytopathy 12 71
Myopathy, Mitochondrial 39

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:699
MeSH 43 D017240
NCIt 49 C101328
SNOMED-CT 67 16851005
ICD10 32 G71.3
MESH via Orphanet 44 D017240
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 72 C0162670
Orphanet 58 ORPHA206966
UMLS 71 C0162670 C2931928
Sources

Summaries for Mitochondrial Myopathy

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

MalaCards based summary : Mitochondrial Myopathy, also known as mitochondrial myopathies, is related to mitochondrial myopathy, infantile, transient and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Mitochondrial Myopathy is SLC25A42 (Solute Carrier Family 25 Member 42), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Bezafibrate and Resveratrol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes.

Wikipedia : 74 Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the... more...

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Related Diseases for Mitochondrial Myopathy

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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 452)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, infantile, transient 35.3 MT-ND5 MT-CYB MT-CO3 MT-ATP6
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 35.0 YARS2 POLG MT-TW MT-TL2 MT-TL1 MT-TA
3 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 35.0 SLC25A42 MT-TW MT-TM MT-TL2 MT-TA FDX2
4 myopathy, lactic acidosis, and sideroblastic anemia 1 34.7 YARS2 PUS1
5 kearns-sayre syndrome 34.0 TK2 SLC25A4 PUS1 POLG MT-TL2 MT-TL1
6 myopathy 33.8 YARS2 SLC25A4 PUS1 POLG MT-CYB FDX2
7 mitochondrial disorders 33.8 YARS2 SLC25A4 POLG MT-TL2 MT-TL1 MT-ND5
8 mitochondrial dna depletion syndrome 2 32.3 TK2 DGUOK
9 lactic acidosis 32.3 YARS2 PUS1 POLG PNPLA8 MT-TW MT-TL2
10 myoclonic epilepsy associated with ragged-red fibers 32.2 POLG MT-TL1 MT-ND5 MT-ND4 MT-CYB MT-CO3
11 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 32.1 POLG MT-ATP6
12 chronic progressive external ophthalmoplegia 32.0 SLC25A4 POLG MT-TL2 MT-TL1 MT-TA MT-ND4
13 mitochondrial encephalomyopathy 31.7 SLC25A42 POLG MT-TW MT-TL2 MT-TL1 MT-ND5
14 mitochondrial metabolism disease 31.7 YARS2 TK2 SLC25A4 PUS1 POLG MT-TW
15 neuropathy 31.6 POLG MT-ND5 MT-ND4 MT-CYB MT-CO3 MT-ATP6
16 sideroblastic anemia 31.6 YARS2 PUS1 MT-ATP6
17 early myoclonic encephalopathy 31.4 POLG MT-TL1 MT-ND5 MT-ND4 MT-ATP6
18 myopathy, lactic acidosis, and sideroblastic anemia 31.3 YARS2 PUS1 MT-ATP6
19 optic nerve disease 31.3 POLG MT-ND5 MT-ND4 MT-CYB MT-CO3 MT-ATP6
20 3-methylglutaconic aciduria, type iii 31.3 SLC25A4 POLG MT-TL1 MT-ND4 MT-CYB MT-ATP6
21 hereditary optic neuropathy 31.2 MT-ND5 MT-ND4 MT-CYB MT-CO3 MT-ATP6
22 mitochondrial dna depletion syndrome 31.2 TK2 POLG
23 cortical blindness 31.1 POLG MT-ND5 MT-ND4
24 coenzyme q10 deficiency disease 31.1 TK2 POLG
25 leigh syndrome 30.9 POLG MT-TW MT-TL1 MT-ND5 MT-ND4 MT-CYB
26 muscular disease 30.8 SLC25A4 PUS1 POLG MT-TL1 MT-ND4 MT-CYB
27 mitochondrial dna depletion syndrome 4a 30.8 POLG DGUOK
28 leber optic atrophy 30.8 SLC25A4 POLG MT-TL2 MT-TL1 MT-TA MT-ND5
29 peripheral nervous system disease 30.8 POLG MT-ND4 MT-ATP6
30 pearson marrow-pancreas syndrome 30.7 YARS2 PUS1 POLG MT-TL1 MT-ND4 MT-CYB
31 mitochondrial dna depletion syndrome 3 30.5 TK2 DGUOK
32 retinitis pigmentosa 30.3 POLG MT-TW MT-TL1 MT-ND4 MT-CYB MT-CO3
33 mitochondrial myopathy with lactic acidosis 12.8
34 mitochondrial myopathy with diabetes 12.6
35 mitochondrial myopathy, lethal, infantile 12.5
36 mitochondrial dna-related mitochondrial myopathy 12.5
37 pure mitochondrial myopathy 12.4
38 mitochondrial myopathy with a defect in mitochondrial-protein transport 12.3
39 myopathy, isolated mitochondrial, autosomal dominant 12.2
40 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 12.2
41 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.7
42 sengers syndrome 11.7
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.7
44 mitochondrial complex iv deficiency 11.5
45 myopathy, mitochondrial, and ataxia 11.3
46 mitochondrial dna depletion syndrome 4b 11.2
47 liver failure, infantile, transient 11.1
48 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.1
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.1
50 tmem70 defect 11.1

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



Diseases related to Mitochondrial Myopathy
Sources

Symptoms & Phenotypes for Mitochondrial Myopathy

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UMLS symptoms related to Mitochondrial Myopathy:


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

Drugs & Therapeutics for Mitochondrial Myopathy

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2
Resveratrol Approved, Experimental, Investigational 501-36-0 445154
3
Nicotinamide Approved, Investigational 98-92-0 936
4
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
6 Alpha-lipoic Acid
7 Antioxidants
8 Protective Agents
9 Thioctic Acid
10 Anti-Inflammatory Agents
11 Anti-Inflammatory Agents, Non-Steroidal
12 Platelet Aggregation Inhibitors
13 Analgesics, Non-Narcotic
14 Antirheumatic Agents
15 Analgesics
16 pyruvate
17 Trace Elements
18 Vitamins
19 Micronutrients
20 Vitamin B Complex
21 Vitamin B9
22 Folate
23 Nutrients
24 carnitine
25 Hypolipidemic Agents
26 Antimetabolites
27 Lipid Regulating Agents
28 Vitamin B3
29 Vasodilator Agents
30 Nicotinic Acids
31 Anticholesteremic Agents
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors
33 Ubiquinone

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension Active, not recruiting NCT03323749 Phase 3
2 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
3 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial Unknown status NCT00068913 Phase 2 Dichloroacetate
4 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of 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
5 A Phase 1/2 Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study Investigating the Safety, Tolerability, and Efficacy of Intravenous MTP-131 for the Treatment of Mitochondrial Myopathy in Subjects With Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
6 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
7 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover 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
8 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
9 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
10 A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Active, not recruiting NCT02976038 Phase 2 elamipretide
11 An Open-label Study to Evaluate the Safety and Tolerability of 12 Weeks Treatment With Oral REN001 in Patients With Primary Mitochondrial Myopathy (PMM), With an Optional Extension of Treatment Recruiting NCT03862846 Phase 1 REN001
12 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
13 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
14 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
15 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
16 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
17 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
18 The Effect of Niacin Supplementation on Systemic Nicotinamide Adenine Dinucleotide (NAD+) Metabolism, Physiology and Muscle Performance in Healthy Controls and Mitochondrial Myopathy Patients Completed NCT03973203
19 A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300) Completed NCT03048617
20 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
21 GDF-15 as a Biomarker for Mitochondrial Disease Completed NCT02745938
22 Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome Completed NCT01194141
23 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Recruiting NCT03513835
24 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT02895789
25 Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies Recruiting NCT03832218
26 Peripheral Artery Disease: Gated P-31 Magnetic Resonance Spectroscopy in Functional Assessment of Peripheral Artery Disease (spectroAMI) Recruiting NCT03723473
27 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
28 Clinical and Molecular Manifestations of Inherited Neurological Disorders Recruiting NCT00004568
29 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
30 The Development of Minimally Invasive Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle Not yet recruiting NCT04086329

Search NIH Clinical Center for Mitochondrial Myopathy

Cochrane evidence based reviews: mitochondrial myopathies

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Genetic Tests for Mitochondrial Myopathy

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Genetic tests related to Mitochondrial Myopathy:

# Genetic test Affiliating Genes
1 Mitochondrial Myopathy 29 FDX2
Sources

Anatomical Context for Mitochondrial Myopathy

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MalaCards organs/tissues related to Mitochondrial Myopathy:

40
Skeletal Muscle, Heart, Testes, Brain, Kidney, Liver, Lung
Sources

Publications for Mitochondrial Myopathy

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Articles related to Mitochondrial Myopathy:

(show top 50) (show all 2028)
# Title Authors PMID Year
1
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. 61
31984159 2020
2
Myopathy reversion in mice after restauration of mitochondrial complex I. 61
31916679 2020
3
RNA-seq profiling, and impaired autophagic process in skeletal muscle of MELAS. 61
31836143 2020
4
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial). 61
31896620 2020
5
Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy. 61
31669236 2020
6
Patients with MELAS with negative myopathology for characteristic ragged-red fibers. 61
31726383 2020
7
Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation. 61
31991853 2020
8
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families. 61
31722256 2020
9
Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. 61
31693521 2020
10
Propofol infusion syndrome complicated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a case report. 61
31988785 2020
11
Cerebrospinal fluid ATP as a potential biomarker in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). 61
31756516 2020
12
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
13
Interplay between substrate recognition, 5' end tRNA processing and methylation activity of human mitochondrial RNase P. 61
31455609 2019
14
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions. 61
31523008 2019
15
Don't stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility. 61
31837701 2019
16
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up. 61
31641589 2019
17
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF. 61
31534910 2019
18
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF. 61
31687337 2019
19
Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy. 61
31294795 2019
20
Toxic Myopathies. 61
31794468 2019
21
Strength training and aerobic exercise training for muscle disease. 61
31808555 2019
22
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy. 61
31851916 2019
23
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. 61
31604776 2019
24
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes. 61
32005492 2019
25
Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature. 61
31807297 2019
26
A Brief History of Mitochondrial Pathologies. 61
31718067 2019
27
A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive. 61
31333056 2019
28
Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure. 61
31534031 2019
29
The neuro-ophthalmology of inherited myopathies. 61
31436541 2019
30
Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease. 61
31345444 2019
31
Translational Medicine: Exercise Physiology Applied to Metabolic Myopathies. 61
31634290 2019
32
Increased number of mitochondria in capillaries distributed in stroke-like lesions of two patients with MELAS. 61
31408922 2019
33
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders. 61
31053354 2019
34
Advances in primary mitochondrial myopathies. 61
31408013 2019
35
Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions. 61
31661037 2019
36
Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report. 61
31630688 2019
37
Novel mutations in DNA2 associated with myopathy and mtDNA instability. 61
31478350 2019
38
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency. 61
31480808 2019
39
[Mitochondrial DNA deletion syndrome: a case report and literature review]. 61
31446694 2019
40
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. 61
31488384 2019
41
Untargeted metabolic profiling of dogs with a suspected toxic mitochondrial myopathy using liquid chromatography-mass spectrometry. 61
31102596 2019
42
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy. 61
31403078 2019
43
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency. 61
31383553 2019
44
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. 61
31039582 2019
45
Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C). 61
31026515 2019
46
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse. 61
30874923 2019
47
Fibroblast growth factor 21 controls mitophagy and muscle mass. 61
30895728 2019
48
DNA polymerase-γ hypothesis in nucleoside reverse transcriptase-induced mitochondrial toxicity revisited: A potentially protective role for citrus fruit-derived naringenin? 61
30876974 2019
49
Whole exome should be preferred over Sanger sequencing in suspected mitochondrial myopathy. 61
30933818 2019
50
Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy. 61
31100146 2019
Sources

Variations for Mitochondrial Myopathy

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ClinVar genetic disease variations for Mitochondrial Myopathy:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TA NC_012920.1:m.5610G>ASNV Pathogenic 162370 rs786200951 MT:5610-5610 MT:5610-5610
2 MT-TA NC_012920.1:m.5631G>ASNV Pathogenic 162369 rs786200950 MT:5631-5631 MT:5631-5631
3 MT-TL2 m.12320A>GSNV Pathogenic 9587 rs121434463 MT:12320-12320 MT:12320-12320
4 MT-TW m.5521G>ASNV Pathogenic 9556 rs199474673 MT:5521-5521 MT:5521-5521
5 MT-TM m.4409T>CSNV Pathogenic 9578 rs118203884 MT:4409-4409 MT:4409-4409
6 MT-TA m.5591G>ASNV Pathogenic 9625 rs121434458 MT:5591-5591 MT:5591-5591
7 SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)SNV Pathogenic/Likely pathogenic 219191 rs864321624 19:19221599-19221599 19:19110790-19110790
8 FDX2 NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu)SNV Likely pathogenic 623644 rs888630930 19:10421292-10421292 19:10310616-10310616
9 LARS2 NM_015340.4(LARS2):c.308G>A (p.Arg103His)SNV Likely pathogenic 691525 3:45441810-45441810 3:45400318-45400318
10 LARS2 NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)SNV Conflicting interpretations of pathogenicity 226694 rs116826217 3:45537795-45537795 3:45496303-45496303
11 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020
12 FDX2 NM_001031734.4(FDX2):c.10A>T (p.Met4Leu)SNV Uncertain significance 143059 rs587777600 19:10426672-10426672 19:10315996-10315996
13 MT-CYB NC_012920.1:m.15096T>CSNV Uncertain significance 370063 rs1057516073 MT:15096-15096 MT:15096-15096
Sources

Expression for Mitochondrial Myopathy

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Search GEO for disease gene expression data for Mitochondrial Myopathy.
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Pathways for Mitochondrial Myopathy

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Pathways related to Mitochondrial Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
tRNA Aminoacylation 65
Show member pathways
 11.34 YARS2 MT-TW MT-TM MT-TL2 MT-TL1 MT-TA
Sources

GO Terms for Mitochondrial Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.55 YARS2 TK2 PUS1 FDX2 DGUOK
2 mitochondrial inner membrane GO:0005743 9.5 SLC25A42 SLC25A4 MT-ND5 MT-ND4 MT-CYB MT-CO3
3 mitochondrion GO:0005739 9.47 YARS2 TK2 SLC25A42 SLC25A4 PUS1 POLG
4 respiratory chain GO:0070469 9.43 MT-ND5 MT-ND4 MT-CYB

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.63 MT-ND5 MT-ND4 MT-CYB
2 response to organonitrogen compound GO:0010243 9.48 MT-ND5 MT-CYB
3 respiratory electron transport chain GO:0022904 9.43 MT-CYB MT-CO3
4 nucleotide biosynthetic process GO:0009165 9.4 TK2 DGUOK
5 ATP transport GO:0015867 9.37 SLC25A42 SLC25A4
6 ATP synthesis coupled electron transport GO:0042773 9.32 MT-ND5 MT-ND4
7 ADP transport GO:0015866 9.26 SLC25A42 SLC25A4
8 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.16 TK2 DGUOK
9 electron transport coupled proton transport GO:0015990 8.96 MT-ND4 MT-CYB
10 response to hyperoxia GO:0055093 8.8 POLG MT-CYB MT-ATP6

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 9.43 MT-CYB MT-CO3 FDX2
2 NADH dehydrogenase activity GO:0003954 9.16 MT-ND5 MT-ND4
3 nucleoside kinase activity GO:0019206 8.96 TK2 DGUOK
4 deoxynucleoside kinase activity GO:0019136 8.62 TK2 DGUOK
Sources

Sources for Mitochondrial Myopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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