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Results 1 - 10 of 17 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. Deafness-dystonia-optic neuronopathy syndrome 
    ... Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan 15;21(2):287-99. doi: 10.1093/hmg/ddr458. Epub 2011 Oct 7. Citation on PubMed ... spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul; ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  3. 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
  4. 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
  5. 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( ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  6. 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
  7. Mitochondrial complex I deficiency 
    ... any time from birth to adulthood.People with mitochondrial complex I deficiency ... (dystonia). Affected individuals may have low muscle tone (hypotonia), ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  8. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... related mtDNA depletion syndrome can include uncontrolled movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. ... associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3): ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  9. Primary coenzyme Q10 deficiency 
    ... disability, poor muscle tone (hypotonia), involuntary muscle contractions (dystonia), progressive muscle stiffness (spasticity), abnormal eye movements (nystagmus), ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  10. Pantothenate kinase-associated neurodegeneration 
    ... pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it ... associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
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