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Results 1 - 6 of 6 for Multiple mitochondrial dysfunctions syndrome 1
  1. 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- ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  2. NFU1 gene 
    ... too high.The other version of the NFU-1 protein is found in the fluid-filled space inside the cell ... dysfunctions syndrome. This severe condition is characterized by impairment of ...
    https://medlineplus.gov/genetics/gene/nfu1 - 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. TWNK gene 
    ... 90058. Erratum In: Nat Genet 2001 Sep;29(1):100. Citation on PubMed Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  6. 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