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Results 1 - 10 of 11 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. BOLA3 gene 
    ... 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 Mayr ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  3. NFU1 gene 
    ... dehydrogenase enzymes. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: ... dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20; ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. FH gene 
    ... Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug 7;25(34):4675-82. doi: 10.1038/sj. ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  9. Mitochondrial DNA 
    ... sequence variation in migraine headache and cyclic vomiting syndrome. Am J Med ... DNA deletions. J Hum Genet. 2008;53(7):598. doi: 10.1007/s10038-008-0289-8. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  10. 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
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