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Prenatal diagnosis of limb‐girdle muscular dystrophy type 2C
Author(s) -
Dinçer P.,
Piccolo F.,
Leturcq F.,
Kaplan J. C.,
Jeanpierre M.,
Topaloǧlu H.
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199812)18:12<1300::aid-pd436>3.0.co;2-h
Subject(s) - prenatal diagnosis , limb girdle muscular dystrophy , muscular dystrophy , genetics , medicine , exon , biology , mutation , gene , pregnancy , fetus
After studies which have mapped the γ‐sarcoglycan deficient limb‐girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the γ‐sarcoglycan gene was found in a consanguineous family and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C. Copyright © 1998 John Wiley & Sons, Ltd.