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Results 1 - 5 of 5 for "Dystonia," mitochondrial
  1. TIMM8A gene 
    ... Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan 15;21( ... Sep 12. Citation on PubMed Tranebjaerg L. Deafness-Dystonia-Optic Neuronopathy Syndrome. ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  2. MT-ND1 gene 
    ... Tarsy D, Johns DR, Tarnopolsky MA. A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics. 2003 Aug;4(4):199-205. doi: ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  3. MT-ND6 gene 
    ... hereditary optic neuropathy and a movement disorder called dystonia, which involves involuntary muscle contractions, tremors, and other uncontrolled movements. This variant appears to disrupt the normal assembly or activity of complex I in mitochondria. It is not known, however, how this MT- ...
    https://medlineplus.gov/genetics/gene/mt-nd6 - Genetics
  4. SERAC1 gene 
    ... 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( ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  5. SUCLA2 gene 
    ... associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3): ... PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics