𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

✍ Scribed by G. Restagno; N. Romero; I. Richard; J.S. Beckmann; M. Pagliano; M. Ferrone; A. Carbonara; L. Merlini

Book ID
116168618
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
303 KB
Volume
6
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Prenatal diagnosis of limb-girdle muscul
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C
✍ P. DinΓ§er; F. Piccolo; F. Leturcq; J. C. Kaplan; M. Jeanpierre; H. TopaloΗ§lu πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 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