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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

✍ Scribed by F. Norwood; M. De Visser; B. Eymard; H. Lochmüller; K. Bushby

Book ID
111065325
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
101 KB
Volume
14
Category
Article
ISSN
1351-5101

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✍ P. Dinçer; F. Piccolo; F. Leturcq; J. C. Kaplan; M. Jeanpierre; H. Topaloǧlu 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

After studies which have mapped the -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 -sarcoglycan gene was found in a consanguineous family