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Journal article

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Abstract:

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or fa...

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Publication status:
Published

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Publisher copy:
10.1002/mds.10476

Authors


Valente, EM More by this author
Misbahuddin, A More by this author
Brancati, F More by this author
Placzek, MR More by this author
Garavaglia, B More by this author
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Journal:
Movement disorders : official journal of the Movement Disorder Society
Volume:
18
Issue:
9
Pages:
1047-1051
Publication date:
2003-09-05
DOI:
EISSN:
1531-8257
ISSN:
0885-3185
URN:
uuid:5318b072-17ed-411c-a8d6-7deb8796355d
Source identifiers:
346170
Local pid:
pubs:346170

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