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Results 1 - 10 of 13 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 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
  3. 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
  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. Overview of Barth Syndrome (Barth Syndrome Foundation)  
    Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Barth Syndrome Foundation
    https://barthsyndrome.org/barthsyndrome/whatisbarthsyndrome.html - External Health Links
  6. 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
  7. Mitochondrial DNA 
    ... PubMed Fischel-Ghodsian N, Kopke RD, Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion. 2004 Sep;4(5-6):675-94. doi: 10.1016/j.mito.2004. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  8. 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
  9. 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
  10. 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
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