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Results 1 - 5 of 5 for Multiple mitochondrial dysfunctions syndrome 6
  1. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... 905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  2. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    RRM2B-related mitochondrial DNA ... affected individuals also have a kidney dysfunction known as renal tubulopathy.Infants ...
    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 
    ... chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3):480-6. doi: 10.1002/path.1461. Citation on PubMed Else T, Greenberg S, Fishbein L. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [updated 2023 Sep 21]. In: ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  5. Cytochrome c oxidase deficiency 
    ... 2; MC4DN2 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; MC4DN6 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9; MC4DN9 MITOCHONDRIAL ... immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion. 2011 May;11(3):430-6. doi: 10.1016/j.mito.2010.12.014. ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics