Open AccessMutation in <i>GM2A</i> Leads to a Progressive Chorea-dementia Syndrome
Author(s) -
Mustafa A. Salih,
Mohammed Z. Seidahmed,
Heba Y. El Khashab,
Muddathir H. Hamad,
Thomas M. Bosley,
Sabrina C. Burn,
Angela Myers,
Megan Landsverk,
Patricia L. Crotwell,
Kaya Bilgüvar,
Shrikant Mane,
Michael C. Kruer
Publication year - 2015
Publication title -
tremor and other hyperkinetic movements
Language(s) - English
Resource type - Journals
ISSN - 2160-8288
DOI - 10.5334/tohm.246
Subject(s) - chorea , missense mutation , dementia , hypotonia , exome sequencing , disease gene identification , medicine , genetics , mutation , movement disorders , neuroscience , pediatrics , disease , biology , pathology , gene