Mitochondrial Myopathy

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Myopathy

MalaCards integrated aliases for Mitochondrial Myopathy:

Name: Mitochondrial Myopathy 12 58 29 6 15
Mitochondrial Myopathies 44 70
Mitochondrial Cytopathy 12 70
Myopathy, Mitochondrial 39


Orphanet: 58  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:699
MeSH 44 D017240
NCIt 50 C101328
SNOMED-CT 67 240096000
ICD10 32 G71.3
MESH via Orphanet 45 D017240
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 71 C0162670
Orphanet 58 ORPHA206966
UMLS 70 C0162670 C2931928

Summaries for Mitochondrial Myopathy

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

MalaCards based summary : Mitochondrial Myopathy, also known as mitochondrial myopathies, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and mitochondrial myopathy, infantile, transient, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Mitochondrial Myopathy is SLC25A4 (Solute Carrier Family 25 Member 4), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. The drugs Bezafibrate and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and kidney.

Wikipedia : 73 Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the... more...

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 435)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 33.4 YARS2 PUS1 MT-ATP6
2 mitochondrial myopathy, infantile, transient 33.2 MT-TE MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-ATP6
3 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.1 YARS2 MT-TW MT-TM MT-TL2 MT-TE MT-TA
4 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 33.0 SLC25A42 SLC25A4 MT-TW MT-TM MT-TL2 MT-TE
5 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 32.6 MT-TW MT-TM MT-TL2 MT-TE MT-TA MT-ND5
6 myopathy, lactic acidosis, and sideroblastic anemia 32.6 YARS2 PUS1 MT-ATP6
7 kearns-sayre syndrome 32.5 SLC25A4 PUS1 MT-TL2 MT-ND5 MT-ND1 MT-CYB
8 myopathy 32.5 YARS2 TK2 SLC25A42 SLC25A4 PUS1 PNPLA8
9 mitochondrial dna depletion syndrome 4b 32.3 SLC25A4 MT-TM DGUOK
10 lactic acidosis 32.1 YARS2 SLC25A42 SLC25A4 PUS1 PNPLA8 MT-TW
11 mitochondrial disorders 31.9 YARS2 TK2 SLC25A42 SLC25A4 PUS1 MT-TW
12 chronic progressive external ophthalmoplegia 31.7 SLC25A4 MT-TL2 MT-TA MT-ND5 MT-ND1 MT-CYB
13 mitochondrial metabolism disease 31.6 SLC25A4 MT-ND1 MT-ATP6 DGUOK
14 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 31.5 SLC25A4 DGUOK
15 mitochondrial encephalomyopathy 31.5 SLC25A42 MT-TW MT-TL2 MT-ND5 MT-ND1 MT-CYB
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 31.5 SLC25A4 DGUOK
17 neuropathy 31.4 SLC25A4 MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-ATP6
18 hypertrophic cardiomyopathy 31.4 SLC25A4 MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-ATP6
19 sideroblastic anemia 31.3 YARS2 PUS1 MT-ATP6 LARS2
20 mitochondrial dna depletion syndrome 2 31.3 TK2 DGUOK
21 myoclonic epilepsy associated with ragged-red fibers 31.3 TK2 MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-ATP6
22 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.2 SLC25A4 MT-CYB MT-ATP6 DGUOK
23 3-methylglutaconic aciduria, type iii 31.1 SLC25A4 MT-ND1 MT-CYB MT-ATP6 DGUOK
24 myopathy, lactic acidosis, and sideroblastic anemia 2 30.9 YARS2 PUS1 MT-ATP6
25 mitochondrial dna depletion syndrome 30.9 TK2 SLC25A4 DGUOK
26 mitochondrial dna-associated leigh syndrome and narp 30.8 MT-TW MT-ND5 MT-ND1 MT-ATP6
27 leigh syndrome 30.8 PUS1 MT-TW MT-ND5 MT-ND1 MT-CYB MT-CO3
28 hereditary optic neuropathy 30.7 MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-ATP6
29 mitochondrial dna depletion syndrome 4a 30.7 YARS2 SLC25A4 MT-ND5 MT-ND1 MT-CO3 MT-ATP6
30 optic nerve disease 30.7 MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-ATP6
31 pearson marrow-pancreas syndrome 30.5 YARS2 PUS1 MT-CYB MT-CO3 MT-ATP6 DGUOK
32 myopathy, lactic acidosis, and sideroblastic anemia 3 30.5 YARS2 PUS1 MT-ATP6
33 mitochondrial dna depletion syndrome 3 30.2 TK2 DGUOK
34 mitochondrial myopathy with lactic acidosis 11.7
35 mitochondrial myopathy with diabetes 11.6
36 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.5
37 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 11.4
38 myopathy, isolated mitochondrial, autosomal dominant 11.4
39 mitochondrial myopathy, lethal, infantile 11.3
40 mitochondrial dna-related mitochondrial myopathy 11.3
41 myopathy, mitochondrial, and ataxia 11.2
42 sengers syndrome 11.2
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.1
44 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 11.1
45 pure mitochondrial myopathy 11.1
46 mitochondrial myopathy with a defect in mitochondrial-protein transport 11.0
47 mitochondrial complex iv deficiency, nuclear type 1 11.0
48 liver failure, infantile, transient 10.9
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 10.9
50 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 10.9

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

Diseases related to Mitochondrial Myopathy

Symptoms & Phenotypes for Mitochondrial Myopathy

UMLS symptoms related to Mitochondrial Myopathy:

muscle weakness; myalgia; muscle cramp; muscle rigidity; muscle spasticity

Drugs & Therapeutics for Mitochondrial Myopathy

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
Nicotinamide Approved, Investigational 98-92-0 936
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
Resveratrol Investigational 501-36-0 445154
6 carnitine
7 Alpha-lipoic Acid
8 Antioxidants
9 Protective Agents
10 Thioctic Acid
11 pyruvate
12 Analgesics, Non-Narcotic
13 Analgesics
14 Antirheumatic Agents
15 Anti-Inflammatory Agents
16 Anti-Inflammatory Agents, Non-Steroidal
17 Platelet Aggregation Inhibitors
18 Vitamin B9
19 Vasodilator Agents
20 Nutrients
21 Trace Elements
22 Micronutrients
23 Antimetabolites
24 Vitamin B Complex
25 Vitamins
26 Lipid Regulating Agents
27 Folate
28 Nicotinic Acids
29 Vitamin B3
30 Hypolipidemic Agents
31 Fluorodeoxyglucose F18
32 Radiopharmaceuticals
33 Fluorides

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Adaptive Phase 2/3 Study With Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants With Primary Mitochondrial Myopathy Not yet recruiting NCT04641962 Phase 3 ASP0367;Placebo
2 A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy Not yet recruiting NCT04535609 Phase 2, Phase 3 REN001;Placebo
3 A Phase 3 Randomized, 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
4 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
5 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, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
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 Safety, Tolerability, and Efficacy of Subcutaneous Injections of MTP-131 in Subjects With Mitochondrial Myopathy Previously Treated in the SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
8 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
9 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
10 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
11 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
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 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 Terminated NCT03862846 Phase 1 REN001
14 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Unknown status NCT03513835
15 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
16 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
17 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
18 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
19 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
20 NiaMIT (NiaMIT_0001) Continuation for Early-stage Mitochondrial Myopathy Patients to Investigate the Effect of Niacin Supplementation on Systemic Nicotinamide Adenine Dinucleotide (NAD+) Metabolism, Physiology and Muscle Performance Completed NCT04538521
21 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
22 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
23 The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics Recruiting NCT04478981
24 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
25 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02895789
26 A Single Case Study of Hypermetabolism Active, not recruiting NCT04805268
27 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

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:

Skeletal Muscle, Eye, Kidney, Smooth Muscle, Skin, Bone Marrow, Bone

Publications for Mitochondrial Myopathy

Articles related to Mitochondrial Myopathy:

(show top 50) (show all 2104)
# Title Authors PMID Year
A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation. 6 61
18835817 2008
A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. 61 6
9673981 1998
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
A novel complex neurological phenotype due to a homozygous mutation in FDX2. 6
30010796 2018
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. 6
25873012 2015
Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 6
16476954 2006
A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. 6
9633749 1998
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. 6
9012410 1997
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients. 61
33717984 2021
Anesthetic management of Kearns-Sayre syndrome. Case report. 61
33160688 2021
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. 61
33457207 2021
Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis. 61
33552640 2021
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 2021
A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function. 61
33279600 2021
A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function. 61
33713125 2021
[Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes(MELAS)]. 61
33762456 2021
Molecular imaging for mitochondrial metabolism and oxidative stress in mitochondrial diseases and neurodegenerative disorders. 61
33358866 2021
A novel exercise testing algorithm to diagnose mitochondrial myopathy. 61
33533527 2021
Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study. 61
33660162 2021
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology. 61
33659869 2021
Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome. 61
33673315 2021
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy. 61
33259687 2021
Taurine rescues mitochondria-related metabolic impairments in the patient-derived induced pluripotent stem cells and epithelial-mesenchymal transition in the retinal pigment epithelium. 61
33706170 2021
Isolated mitochondrial myopathy due to m.3243A > G mutation in MT-TL1 gene. 61
33484420 2021
Anesthesia for bariatric surgery in patient with mitochondrial myopathy - case report. 61
33712259 2021
Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy. 61
33220502 2021
Optical coherence tomography as a possible tool to monitor and predict disease progression in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. 61
33220496 2021
Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures. 61
33654593 2021
Progressive external ophthalmoplegia associated with novel MT-TN mutations. 61
32869280 2021
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India. 61
33469851 2021
Development of a Patient-Reported Outcome Questionnaire to Evaluate Primary Mitochondrial Myopathy Symptoms: The Primary Mitochondrial Myopathy Symptom Assessment. 61
33214391 2020
[A Chinese family with mitochondrial myopathy with myocardiopathy as the main manifestation]. 61
33256341 2020
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy. 61
33209982 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. 61
33128823 2020
Endoscopic management of pediatric extubation failure in the intensive care unit. 61
33120102 2020
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies. 61
33352713 2020
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. 61
33304817 2020
Recurrent Stroke Events Secondary to a Late Presentation of Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Symptoms (MELAS) Syndrome. 61
33282603 2020
Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy. 61
33246973 2020
A MELAS Patient Developing Fatal Acute Renal Failure with Lactic Acidosis and Rhabdomyolysis. 61
32641653 2020
"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation. 61
32577866 2020
A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome. 61
33120694 2020
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome. 61
33107434 2020
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency. 61
33204590 2020
Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern. 61
32399949 2020
Successful treatment of a patient with mitochondrial myopathy with alirocumab. 61
32800583 2020
Intracranial calcifications in childhood: Part 2. 61
32642802 2020
A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy. 61
32096613 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 61
32442335 2020
Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria. 61
32665401 2020

Variations for Mitochondrial Myopathy

ClinVar genetic disease variations for Mitochondrial Myopathy:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TM m.4409T>C SNV Pathogenic 9578 rs118203884 GRCh37: MT:4409-4409
GRCh38: MT:4409-4409
2 MT-TL2 m.12320A>G SNV Pathogenic 9587 rs121434463 GRCh37: MT:12320-12320
GRCh38: MT:12320-12320
3 MT-TA m.5591G>A SNV Pathogenic 9625 rs121434458 GRCh37: MT:5591-5591
GRCh38: MT:5591-5591
4 MT-TA NC_012920.1:m.5631G>A SNV Pathogenic 162369 rs786200950 GRCh37: MT:5631-5631
GRCh38: MT:5631-5631
5 MT-TA NC_012920.1:m.5610G>A SNV Pathogenic 162370 rs786200951 GRCh37: MT:5610-5610
GRCh38: MT:5610-5610
6 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Pathogenic 18249 rs121912683 GRCh37: 4:186066174-186066174
GRCh38: 4:185145020-185145020
7 MT-TW m.5521G>A SNV Pathogenic 9556 rs199474673 GRCh37: MT:5521-5521
GRCh38: MT:5521-5521
8 MT-TE m.14709T>C SNV Pathogenic 9617 rs121434453 GRCh37: MT:14709-14709
GRCh38: MT:14709-14709
9 SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) SNV Likely pathogenic 219191 rs864321624 GRCh37: 19:19221599-19221599
GRCh38: 19:19110790-19110790
10 FDX2 NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu) SNV Likely pathogenic 623644 rs888630930 GRCh37: 19:10421292-10421292
GRCh38: 19:10310616-10310616
11 LARS2 NM_015340.4(LARS2):c.308G>A (p.Arg103His) SNV Likely pathogenic 691525 rs757204777 GRCh37: 3:45441810-45441810
GRCh38: 3:45400318-45400318
12 FDX2 NM_001031734.4(FDX2):c.10A>T (p.Met4Leu) SNV Uncertain significance 143059 rs587777600 GRCh37: 19:10426672-10426672
GRCh38: 19:10315996-10315996
13 MT-CYB NC_012920.1:m.15096T>C SNV Uncertain significance 370063 rs1057516073 GRCh37: MT:15096-15096
GRCh38: MT:15096-15096
14 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) SNV Uncertain significance 226694 rs116826217 GRCh37: 3:45537795-45537795
GRCh38: 3:45496303-45496303
15 PUS1 NM_025215.6(PUS1):c.1065G>T (p.Pro355=) SNV Likely benign 512031 rs147555676 GRCh37: 12:132426357-132426357
GRCh38: 12:131941812-131941812
16 PUS1 NM_025215.6(PUS1):c.1047C>T (p.Asn349=) SNV Likely benign 721364 rs145061048 GRCh37: 12:132426339-132426339
GRCh38: 12:131941794-131941794
17 PUS1 NM_025215.6(PUS1):c.1197C>T (p.Phe399=) SNV Benign 138854 rs35461276 GRCh37: 12:132426489-132426489
GRCh38: 12:131941944-131941944
18 PUS1 NM_025215.6(PUS1):c.999G>C (p.Leu333=) SNV Benign 138853 rs150359622 GRCh37: 12:132426291-132426291
GRCh38: 12:131941746-131941746
19 PUS1 NM_025215.6(PUS1):c.345C>T (p.Asp115=) SNV Benign 138857 rs145798848 GRCh37: 12:132416761-132416761
GRCh38: 12:131932216-131932216
20 PUS1 NM_025215.6(PUS1):c.364C>A (p.Arg122=) SNV Benign 138858 rs142954643 GRCh37: 12:132416780-132416780
GRCh38: 12:131932235-131932235
21 PUS1 NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) SNV Benign 138859 rs76655496 GRCh37: 12:132416813-132416813
GRCh38: 12:131932268-131932268
22 PUS1 NM_025215.6(PUS1):c.621G>A (p.Thr207=) SNV Benign 215035 rs142044204 GRCh37: 12:132425913-132425913
GRCh38: 12:131941368-131941368

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 9.63 YARS2 TK2 PUS1 LARS2 FDX2 DGUOK
2 mitochondrial inner membrane GO:0005743 9.5 SLC25A42 SLC25A4 MT-ND5 MT-ND1 MT-CYB MT-CO3
3 mitochondrion GO:0005739 9.5 YARS2 TK2 SLC25A42 SLC25A4 PUS1 PNPLA8
4 respiratory chain GO:0070469 9.43 MT-ND5 MT-ND1 MT-CYB

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

# Name GO ID Score Top Affiliating Genes
1 ATP biosynthetic process GO:0006754 9.4 DGUOK MT-ATP6
2 aerobic respiration GO:0009060 9.37 MT-CO3 MT-ND1
3 respiratory electron transport chain GO:0022904 9.32 MT-CO3 MT-CYB
4 response to hyperoxia GO:0055093 9.26 MT-ATP6 MT-CYB
5 electron transport coupled proton transport GO:0015990 9.16 MT-ND5 MT-CYB
6 ADP transport GO:0015866 8.96 SLC25A42 SLC25A4
7 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 8.62 TK2 DGUOK

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

# Name GO ID Score Top Affiliating Genes
1 ATP transmembrane transporter activity GO:0005347 9.26 SLC25A42 SLC25A4
2 NADH dehydrogenase activity GO:0003954 9.16 MT-ND5 MT-ND1
3 electron transfer activity GO:0009055 9.13 MT-CYB MT-CO3 FDX2
4 deoxynucleoside kinase activity GO:0019136 8.62 TK2 DGUOK

Sources for Mitochondrial Myopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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