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Results 1 - 7 of 7 for Mitochondrial "myopathy," isolated
  1. Mitochondrial complex V deficiency 
    ... ATP synthase) deficiency nuclear type 4B TMEM70-related mitochondrial encephalo-cardio-myopathy Isolated ATP synthase deficiency National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  2. ACAD9 deficiency 
    ... Genetic Testing Registry: Acyl-CoA dehydrogenase 9 deficiency Isolated complex I deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL ... Feb 14. Citation on PubMed
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  3. MT-TS1 gene 
    ... Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409. Citation on ... Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases. ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  4. Mitochondrial complex III deficiency 
    ... associated with changes in mtDNA to their children. Isolated CoQ-cytochrome c reductase deficiency Ubiquinone-cytochrome c ... Registry: Mitochondrial complex III deficiency nuclear type 8 Isolated complex III deficiency National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  5. MT-ND5 gene 
    ... a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003 Mar; ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  6. Cytochrome c oxidase deficiency 
    ... infantile, due to cytochrome c oxidase deficiency 1 Isolated cytochrome C oxidase deficiency National Organization for Rare ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  7. TAFAZZIN gene 
    ... gene can also cause a heart condition called isolated noncompaction of left ventricular myocardium (INVM). This condition ... M, Vaz FM, Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an ... Phospholipid-Lysophospholipid Acyltransferase. J Mol Biol. 2020 Aug ...
    https://medlineplus.gov/genetics/gene/tafazzin - Genetics