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Results 1 - 6 of 6 for Multiple mitochondrial dysfunctions syndrome 2
  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( ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  2. NFU1 gene 
    ... a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am ... dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20; ...
    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 
    ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  6. FH gene 
    ... fumarase deficiency. Mol Genet Metab. 2006 Jun;88(2):146-52. doi: 10.1016/j.ymgme.2006.01.007. Epub 2006 Feb 28. Citation on PubMed King A, Selak MA, 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