Results 1 -
7
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7
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Mitochondrial "myopathy," isolated
- ... ATP synthase) deficiency nuclear type 4B TMEM70-related mitochondrial encephalo-cardio-myopathy Isolated ATP synthase deficiency National Organization for Rare Disorders ( ...
- ... Genetic Testing Registry: Acyl-CoA dehydrogenase 9 deficiency Isolated complex I deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL ... Feb 14. Citation on PubMed
- ... 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. ...
- ... 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 ( ...
- ... a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003 Mar; ...
- ... infantile, due to cytochrome c oxidase deficiency 1 Isolated cytochrome C oxidase deficiency National Organization for Rare ...
- ... 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 ...