Muscle MRI findings in limb girdle muscular dystrophy type 2L
✍ Scribed by Anna Sarkozy; Marcus Deschauer; Robert-Yves Carlier; Bertold Schrank; Jürgen Seeger; Maggie C. Walter; Benedikt Schoser; Peter Reilich; France Leturq; Aleksandar Radunovic; Anthony Behin; Pascal Laforet; Bruno Eymard; Herbert Schreiber; Debbie Hicks; Sujit S. Vaidya; Dieter Gläser; Pierre G. Carlier; Kate Bushby; Hanns Lochmüller; Volker Straub
- Book ID
- 116795274
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 884 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0960-8966
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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