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Results 1 - 10 of 13 for Dystonia 16
  1. PRKRA gene 
    ... PRKRA gene have been identified in people with dystonia 16. This condition is one of many forms of ... Most of the PRKRA gene mutations that cause dystonia 16 change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/prkra - Genetics
  2. SGCE gene 
    ... Blake DJ. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet. 2007 Feb 1;16(3):327-42. doi: 10.1093/hmg/ddl472. ...
    https://medlineplus.gov/genetics/gene/sgce - Genetics
  3. SLC30A10 gene 
    ... Bonifati V. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  4. ARX gene 
    ... mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785. Citation on PubMed Gecz J, Cloosterman D, Partington M. ARX: a gene for all seasons. Curr Opin Genet Dev. 2006 Jun;16(3):308-16. doi: 10.1016/j.gde. ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  5. TH gene 
    ... J Child Neurol. 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. Citation on PubMed Schiller A, Wevers RA, Steenbergen GC, Blau N, Jung HH. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology. 2004 Oct ...
    https://medlineplus.gov/genetics/gene/th - Genetics
  6. GCH1 gene 
    ... gene have been found to cause dopa-responsive dystonia. This condition is characterized by a pattern of involuntary muscle contractions (dystonia), tremors, and other uncontrolled movements and usually responds ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  7. ATP1A3 gene 
    ... deep brain stimulation. Neurology. 2008 Apr 15;70(16 Pt 2):1501-3. doi: ... dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  8. PLA2G6 gene 
    ... also cause atypical neuroaxonal dystrophy and PLA2G6-related dystonia-parkinsonism, which are conditions in which deterioration of ... not evident until the teenage years.PLA2G6-related dystonia-parkinsonism is also caused by PLA2G6 gene mutations ...
    https://medlineplus.gov/genetics/gene/pla2g6 - Genetics
  9. SLC39A14 gene 
    ... mutations have been found to cause hypermanganesemia with dystonia 2, a condition that begins in early childhood ... and brain (hypermanganesemia), involuntary tensing of the muscles (dystonia), and other movement problems. These mutations impair the ...
    https://medlineplus.gov/genetics/gene/slc39a14 - Genetics
  10. BTK gene 
    ... known as TIMM8A. Mutations in TIMM8A cause deafness-dystonia-optic neuronopathy (DDON) syndrome, which is characterized by ... in intellectual function (dementia), and involuntary muscle tensing (dystonia) or difficulty coordinating movements (ataxia). Individuals with large ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
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