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Results 1 - 10 of 13 for Multiple mitochondrial dysfunctions syndrome 4
  1. NFU1 gene 
    ... L, Ghezzi D, Moroni I. Cavitating leukoencephalopathy with multiple mitochondrial ... J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705- ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  2. BOLA3 gene 
    ... Prokisch H. Homozygous missense mutation in BOLA3 causes multiple mitochondrial ... J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705- ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  3. Multiple mitochondrial dysfunctions syndrome 
    ... MMDS1 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 MULTIPLE MITOCHONDRIAL ... and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  4. 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
  5. 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
  6. TWNK gene 
    ... in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function, ... with Perrault syndrome, a condition characterized by hearing loss in affected ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  7. FBXL4 gene 
    ... of the body's cells and tissues. Reduced mitochondrial function eventually leads to cell dysfunction, most noticeably ... PubMed F-BOX ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  8. 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. ... Chretien D, Rustin P, Munnich A. Spectrum of mitochondrial DNA rearrangements in ... syndrome. Hum Mol Genet. 1995 Aug;4(8):1327-30. doi: 10.1093/hmg/4. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  9. 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
  10. Hereditary paraganglioma-pheochromocytoma 
    ... such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple ... Mutations in at least four genes increase the risk of developing the different ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
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