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Results 1 - 5 of 5 for Multiple mitochondrial dysfunctions syndrome 6
  1. 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
  2. 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
  3. FBXL4 gene 
    ... El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  4. 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
  5. FH gene 
    ... Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking ... mutation. J Med Genet. 2006 Jun;43(6):523-6. doi: 10.1136/jmg.2005.036400. ...
    https://medlineplus.gov/genetics/gene/fh - Genetics