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Results 1 - 6 of 6 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. 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. 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. 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
  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