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Results 1 - 10 of 31 for Mitochondrial myopathy
  1. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ... no family history of MELAS. MELAS MELAS syndrome Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial myopathy, lactic acidosis, stroke-like episode Myopathy, mitochondrial-encephalopathy- ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  2. MT-TE gene 
    ... TE gene are also involved in infantile transient mitochondrial myopathy (also known as benign COX deficiency myopathy). This ... or 3.The mutations involved in infantile transient mitochondrial myopathy change single nucleotides in mitochondrial DNA. Specifically, the ...
    https://medlineplus.gov/genetics/gene/mt-te - Genetics
  3. Barth syndrome 
    ... M, Xu Y. The Function of Tafazzin, a Mitochondrial Phospholipid-Lysophospholipid ... Jan 8. Citation on PubMed
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  4. ACAD9 deficiency 
    ... I deficiency National ... 2017 Feb 14. Citation on PubMed
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  5. Myoclonic epilepsy with ragged-red fibers 
    ... A, Volpi N, Dotti MT, Federico A. Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel ... EL, Taylor RW, McFarland R. Mutations in the mitochondrial tRNA Ser(AGY) gene ... retinal degeneration, myopathy and epilepsy. Eur J Hum Genet. 2012 Aug; ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  6. MT-CYB gene 
    ... of yeast as a model organism to study mitochondrial myopathy and associated diseases. Biochim Biophys Acta. 2013 Nov- ...
    https://medlineplus.gov/genetics/gene/mt-cyb - Genetics
  7. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... show signs and symptoms of the condition. MEPOP Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction Mitochondrial ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  8. SLC25A4 gene 
    ... muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet. 2005 Oct 15;14(20):3079-88. doi: 10.1093/hmg/ddi341. Epub 2005 Sep 9. Citation on PubMed ... 1 (ANT1): a new factor in mitochondrial disease. IUBMB Life. 2005 Sep;57(9):607- ...
    https://medlineplus.gov/genetics/gene/slc25a4 - Genetics
  9. 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
  10. Kearns-Sayre syndrome 
    ... and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 1994 Jan;3(1):13-9. doi: 10.1093/hmg/3.1.13. Erratum In: Hum Mol Genet 1994 Apr;3(4):687. Citation ... with single large-scale mitochondrial DNA deletions. J Hum Genet. 2008;53(7): ...
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
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