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Results 1 - 10 of 34 for Dystonia 16
  1. Dystonia 16 
    Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary ... muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through ...
    https://medlineplus.gov/genetics/condition/dystonia-16 - Genetics
  2. 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
  3. Myoclonus-dystonia 
    ... 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/condition/myoclonus-dystonia - Genetics
  4. 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
  5. 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
  6. Hypermanganesemia with dystonia 
    ... 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/.../hypermanganesemia-with-dystonia - Genetics
  7. 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
  8. 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
  9. Tyrosine hydroxylase deficiency 
    ... hydroxylase deficiency (also called TH-deficient dopa-responsive dystonia), symptoms usually appear during childhood. Affected individuals may ... signs and symptoms may include involuntary muscle contractions (dystonia) that lead to abnormal repetitive movements in the ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  10. 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
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