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Results 1 - 10 of 13 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. NFU1 gene 
    ... L, Ghezzi D, Moroni I. Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20;5:412. doi: 10.3389/fgene.2014.00412. eCollection ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  3. BOLA3 gene 
    ... Prokisch H. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis. 2013 Jan;36(1):55-62. doi: 10.1007/s10545-012-9489-7. Epub 2012 May 5. Citation on PubMed Mayr JA, Feichtinger RG, Tort ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  4. 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
  5. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a severe condition that affects multiple body systems. It typically leads to brain dysfunction combined with muscle weakness (encephalomyopathy) and a problem ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  6. OPA1 gene 
    ... that begin by early childhood. Individuals with Behr syndrome develop optic ... due to poor mitochondrial function. It is unclear why OPA1 gene mutations ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  7. Mitochondrial DNA 
    ... PubMed Fischel-Ghodsian N, Kopke RD, Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion. 2004 Sep;4(5-6):675-94. doi: 10.1016/j.mito. ... homology at the breakpoint and clinical phenotype of mitochondrial DNA ... PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  8. FBXL4 gene 
    ... in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. Citation on PubMed Gai X, Ghezzi D, Johnson ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  9. 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
  10. 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
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