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ε‐sarcoglycan mutations found in combination with other dystonia gene mutations
Author(s) -
Klein Christine,
Liu Liu,
Doheny Dana,
Kock Norman,
Müller Birgitt,
De Carvalho Aguiar Patricia,
Leung Joanne,
De Leon Deborah,
Bressman Susan B.,
Silverman Jeremy,
Smith Christopher,
Danisi Fabio,
Morrison Chris,
Walker Ruth H.,
Velickovic Miodrag,
Schwinger Eberhard,
Kramer Patricia L.,
Breakefield Xandra O.,
Brin Mitchell F.,
Ozelius Laurie J.
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10358
Subject(s) - dystonia , myoclonus , mutation , genetics , gene , biology , gene mutation , neuroscience
Myoclonus‐dystonia is a movement disorder associated with mutations in the ε‐sarcoglycan gene ( SGCE ) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE . The molecular mechanisms through which the detected mutations may contribute to myoclonus‐dystonia remain to be determined.