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Results 1 - 5 of 5 for Multiple mitochondrial dysfunctions syndrome 5
  1. Multiple mitochondrial dysfunctions syndrome 
    ... mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    FBXL4-related encephalomyopathic ... encephalomyopathic mtDNA depletion syndrome have weak muscle tone (hypotonia) and ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  3. GM3 synthase deficiency 
    ... Rotig A, Paquis-Flucklinger V. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J Hum Genet. 2013 May;21(5):528-34. doi: 10.1038/ejhg.2012.202. ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  4. MEGDEL syndrome 
    ... Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Citation on PubMed
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  5. Hereditary paraganglioma-pheochromocytoma 
    ... PPGL2 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3; PPGL3 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5 PubMed Astuti D, Latif F, Dallol A, ... chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3):480-6. ... Syndromes. 2008 May 21 [updated 2023 Sep 21]. In: ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics