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Results 1 - 5 of 5 for Multiple mitochondrial dysfunctions syndrome 7
  1. Multiple mitochondrial dysfunctions syndrome 
    ... 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 Navarro- ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    ... S A. 2012 Aug 14;109(33):13302-7. doi: 10.1073/pnas.1211289109. Epub 2012 Jul 30. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  3. MEGDEL syndrome 
    ... Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Citation on PubMed
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  4. Hereditary paraganglioma-pheochromocytoma 
    ... such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple endocrine neoplasia. These other disorders feature additional tumor ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  5. Cytochrome c oxidase deficiency 
    ... problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics