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Results 1 - 7 of 7 for Multiple mitochondrial dysfunctions syndrome 5
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. TWNK gene 
    ... JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial ... Sep 5. Citation on PubMed Hakonen AH, Isohanni P, Paetau ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  7. FH gene 
    ... Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug 7;25(34): ...
    https://medlineplus.gov/genetics/gene/fh - Genetics