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Results 1 - 1 of 1 for "Myoclonus-dystonia" syndrome
  1. SGCE gene 
    ... PW, Blake DJ. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: ... TM. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet. 2003 ...
    https://medlineplus.gov/genetics/gene/sgce - Genetics