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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 Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and brain.

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 453)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, infantile, transient 35.3 MT-TE MT-ND5 MT-CYB MT-CO3 MT-ATP6
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 35.2 YARS2 POLG MT-TW MT-TL2 MT-TL1 MT-TE
3 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 35.1 SLC25A42 MT-TW MT-TM MT-TL2 MT-TE MT-TA
4 myopathy, lactic acidosis, and sideroblastic anemia 1 34.8 YARS2 PUS1 MT-ATP6
5 kearns-sayre syndrome 34.2 TK2 SLC25A4 PUS1 POLG MT-TL2 MT-TL1
6 mitochondrial disorders 33.9 YARS2 SLC25A4 POLG MT-TL2 MT-TL1 MT-TE
7 myopathy 33.7 YARS2 TK2 SLC25A42 SLC25A4 PUS1 POLG
8 myopathy, lactic acidosis, and sideroblastic anemia 33.6 YARS2 PUS1 MT-ATP6
9 mitochondrial dna depletion syndrome 4b 32.9 SLC25A4 POLG DGUOK
10 lactic acidosis 32.4 YARS2 PUS1 POLG PNPLA8 MT-TW MT-TM
11 myoclonic epilepsy associated with ragged-red fibers 32.4 POLG MT-TL1 MT-ND5 MT-CYB MT-CO3 MT-ATP6
12 mitochondrial dna depletion syndrome 2 32.3 TK2 DGUOK
13 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 32.3 SLC25A4 POLG DGUOK
14 chronic progressive external ophthalmoplegia 32.1 SLC25A4 POLG MT-TL2 MT-TL1 MT-TA MT-CYB
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.0 SLC25A4 POLG DGUOK
16 mitochondrial metabolism disease 32.0 YARS2 TK2 SLC25A4 PUS1 POLG MT-TL2
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 31.9 SLC25A4 POLG DGUOK
18 mitochondrial encephalomyopathy 31.9 SLC25A42 POLG MT-TW MT-TL2 MT-TL1 MT-ND5
19 neuropathy 31.7 POLG MT-ND5 MT-CYB MT-CO3 MT-ATP6
20 sideroblastic anemia 31.7 YARS2 PUS1 MT-ATP6
21 hypertrophic cardiomyopathy 31.6 SLC25A4 MT-TL1 MT-CYB MT-CO3 MT-ATP6
22 early myoclonic encephalopathy 31.5 POLG MT-TL1 MT-ND5 MT-ATP6
23 optic nerve disease 31.4 POLG MT-ND5 MT-CYB MT-CO3 MT-ATP6
24 3-methylglutaconic aciduria, type iii 31.4 SLC25A4 POLG MT-CYB MT-ATP6 DGUOK
25 hereditary optic neuropathy 31.3 MT-ND5 MT-CYB MT-CO3 MT-ATP6
26 myopathy, lactic acidosis, and sideroblastic anemia 2 31.3 YARS2 PUS1 MT-ATP6
27 mitochondrial dna depletion syndrome 31.2 TK2 SLC25A4 POLG DGUOK
28 diabetes and deafness, maternally inherited 31.2 MT-TL1 MT-TE
29 mitochondrial dna depletion syndrome 5 31.2 POLG DGUOK
30 leigh syndrome 31.1 POLG MT-TW MT-TL1 MT-ND5 MT-CYB MT-CO3
31 coenzyme q10 deficiency disease 31.1 TK2 POLG
32 leber optic atrophy 31.0 SLC25A4 POLG MT-TL2 MT-TL1 MT-TE MT-ND5
33 myopathy, lactic acidosis, and sideroblastic anemia 3 30.8 YARS2 PUS1 MT-ATP6
34 pearson marrow-pancreas syndrome 30.8 YARS2 PUS1 POLG MT-TL1 MT-CYB MT-ATP6
35 mitochondrial dna depletion syndrome 3 30.7 TK2 POLG DGUOK
36 neuropathy, ataxia, and retinitis pigmentosa 30.7 POLG MT-ATP6
37 mitochondrial dna depletion syndrome 4a 30.2 POLG DGUOK
38 mitochondrial myopathy with lactic acidosis 12.8
39 mitochondrial myopathy with diabetes 12.7
40 mitochondrial myopathy, lethal, infantile 12.5
41 mitochondrial dna-related mitochondrial myopathy 12.5
42 pure mitochondrial myopathy 12.4
43 mitochondrial myopathy with a defect in mitochondrial-protein transport 12.3
44 myopathy, isolated mitochondrial, autosomal dominant 12.2
45 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 12.2
46 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.7
47 sengers syndrome 11.7
48 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.6
49 mitochondrial complex iv deficiency 11.5
50 myopathy, mitochondrial, and ataxia 11.4

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
Nicotinamide Approved, Investigational 98-92-0 936
3
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
5
Coenzyme Q10 Approved, Investigational, Nutraceutical 303-98-0 5281915
6
Resveratrol Investigational 501-36-0 445154
7 carnitine
8 Alpha-lipoic Acid
9 Antioxidants
10 Thioctic Acid
11 Protective Agents
12 Analgesics, Non-Narcotic
13 Analgesics
14 Platelet Aggregation Inhibitors
15 Anti-Inflammatory Agents
16 Antirheumatic Agents
17 Anti-Inflammatory Agents, Non-Steroidal
18 pyruvate
19 Micronutrients
20 Vitamin B Complex
21 Vitamins
22 Nutrients
23 Folate
24 Trace Elements
25 Vitamin B9
26 Hypolipidemic Agents
27 Lipid Regulating Agents
28 Antimetabolites
29 Nicotinic Acids
30 Vitamin B3
31 Vasodilator Agents
32 Ubiquinone
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors

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 Terminated 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 Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
6 Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 elamipretide (low dose);elamipretide (intermediate dose);elamipretide (high dose);Placebo
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) Terminated NCT02976038 Phase 2 elamipretide
11 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
12 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 Active, not recruiting NCT03862846 Phase 1 REN001
13 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Unknown status NCT03513835
14 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
15 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
16 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
17 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
18 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
19 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
20 A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300) Completed NCT03048617
21 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
22 GDF-15 as a Biomarker for Mitochondrial Disease Completed NCT02745938
23 Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome Completed NCT01194141
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 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
27 Peripheral Artery Disease: Gated P-31 Magnetic Resonance Spectroscopy in Functional Assessment of Peripheral Artery Disease (spectroAMI) Recruiting NCT03723473
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, Testes, Brain, Heart, Kidney, Eye, Skin
Sources

Publications for Mitochondrial Myopathy

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Articles related to Mitochondrial Myopathy:

(show top 50) (show all 2054)
# Title Authors PMID Year
1
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. 61
32348839 2020
2
Response to "Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise". 61
32418625 2020
3
Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise. 61
32444160 2020
4
Response to Letter regarding case report, "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes due to m.3243A > G mutation in a 76-year-old woman". 61
32466984 2020
5
Of Mice and Men: NAD+ Boosting with Niacin Provides Hope for Mitochondrial Myopathy Patients. 61
32492387 2020
6
Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy. 61
32386566 2020
7
Critical Illness and the Frailty Syndrome: Mechanisms and Potential Therapeutic Targets. 61
32384344 2020
8
"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation. 61
32577866 2020
9
Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations. 61
32453097 2020
10
Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation. 61
32436573 2020
11
Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy. 61
32272361 2020
12
Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report. 61
32357846 2020
13
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 61
32442335 2020
14
Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern. 61
32399949 2020
15
Long-Standing Hypokalemia and Lactic Acidosis as the Primary Presentation of Mitochondrial Myopathy. 61
32405597 2020
16
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. 61
32439808 2020
17
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes due to m.3243A > G mutation in a 76-year-old woman. 61
32224343 2020
18
Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient. 61
32483512 2020
19
Metabolic effects of bezafibrate in mitochondrial disease. 61
32107855 2020
20
Mitochondrial Dynamics Regulation in Skin Fibroblasts from Mitochondrial Disease Patients. 61
32183225 2020
21
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. 61
31984159 2020
22
A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy. 61
32096613 2020
23
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. 61
31896620 2020
24
Recent developments in the field of cachexia, sarcopenia, and muscle wasting: highlights from the 12th Cachexia Conference. 61
32049447 2020
25
RNA-seq profiling, and impaired autophagic process in skeletal muscle of MELAS. 61
31836143 2020
26
Myopathy reversion in mice after restauration of mitochondrial complex I. 61
31916679 2020
27
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes. 61
32005492 2020
28
THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS. 61
31682520 2020
29
Aerobic Exercise Training in Patients With mtDNA-Related Mitochondrial Myopathy. 61
32508662 2020
30
Patients with MELAS with negative myopathology for characteristic ragged-red fibers. 61
31726383 2020
31
Comment on "CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions". 61
32308999 2020
32
Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy. 61
31669236 2020
33
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families. 61
31722256 2020
34
Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. 61
31693521 2020
35
Cerebrospinal fluid ATP as a potential biomarker in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). 61
31756516 2020
36
Propofol infusion syndrome complicated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a case report. 61
31988785 2020
37
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
38
Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation. 61
31991853 2020
39
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF. 61
31534910 2019
40
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF. 61
31687337 2019
41
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions. 61
31523008 2019
42
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
43
Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy. 61
31294795 2019
44
Toxic Myopathies. 61
31794468 2019
45
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. 61
31604776 2019
46
Strength training and aerobic exercise training for muscle disease. 61
31808555 2019
47
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy. 61
31851916 2019
48
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
49
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up. 61
31641589 2019
50
Interplay between substrate recognition, 5' end tRNA processing and methylation activity of human mitochondrial RNase P. 61
31455609 2019
Sources

Variations for Mitochondrial Myopathy

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ClinVar genetic disease variations for Mitochondrial Myopathy:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TW m.5521G>ASNV Pathogenic 9556 rs199474673 MT:5521-5521 MT:5521-5521
2 MT-TM m.4409T>CSNV Pathogenic 9578 rs118203884 MT:4409-4409 MT:4409-4409
3 MT-TL2 m.12320A>GSNV Pathogenic 9587 rs121434463 MT:12320-12320 MT:12320-12320
4 MT-TA m.5591G>ASNV Pathogenic 9625 rs121434458 MT:5591-5591 MT:5591-5591
5 MT-TA NC_012920.1:m.5610G>ASNV Pathogenic 162370 rs786200951 MT:5610-5610 MT:5610-5610
6 MT-TA NC_012920.1:m.5631G>ASNV Pathogenic 162369 rs786200950 MT:5631-5631 MT:5631-5631
7 SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)SNV Pathogenic/Likely pathogenic 219191 rs864321624 19:19221599-19221599 19:19110790-19110790
8 MT-TE m.14709T>CSNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709
9 FDX2 NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu)SNV Likely pathogenic 623644 rs888630930 19:10421292-10421292 19:10310616-10310616
10 LARS2 NM_015340.4(LARS2):c.308G>A (p.Arg103His)SNV Likely pathogenic 691525 3:45441810-45441810 3:45400318-45400318
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 LARS2 NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)SNV Conflicting interpretations of pathogenicity 226694 rs116826217 3:45537795-45537795 3:45496303-45496303
13 MT-CYB NC_012920.1:m.15096T>CSNV Uncertain significance 370063 rs1057516073 MT:15096-15096 MT:15096-15096
14 FDX2 NM_001031734.4(FDX2):c.10A>T (p.Met4Leu)SNV Uncertain significance 143059 rs587777600 19:10426672-10426672 19:10315996-10315996
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
 11.41 YARS2 MT-TW MT-TM MT-TL2 MT-TL1 MT-TE
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 mitochondrion GO:0005739 9.47 YARS2 TK2 SLC25A42 SLC25A4 PUS1 POLG
3 mitochondrial inner membrane GO:0005743 9.43 SLC25A42 SLC25A4 MT-ND5 MT-CYB MT-CO3 MT-ATP6

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

# Name GO ID Score Top Affiliating Genes
1 response to organonitrogen compound GO:0010243 9.43 MT-ND5 MT-CYB
2 ATP transport GO:0015867 9.4 SLC25A42 SLC25A4
3 respiratory electron transport chain GO:0022904 9.37 MT-CYB MT-CO3
4 nucleotide biosynthetic process GO:0009165 9.32 TK2 DGUOK
5 ADP transport GO:0015866 9.26 SLC25A42 SLC25A4
6 electron transport coupled proton transport GO:0015990 9.16 MT-ND5 MT-CYB
7 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 8.96 TK2 DGUOK
8 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 9.33 MT-CYB MT-CO3 FDX2
2 nucleoside kinase activity GO:0019206 8.96 TK2 DGUOK
3 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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