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Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

✍ Scribed by I Naom; M D'Alessandro; C.A Sewry; J Philpot; A.Y Manzur; V Dubowitz; F Muntoni


Book ID
117670966
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
134 KB
Volume
8
Category
Article
ISSN
0960-8966

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✍ Corrado Angelini; Marina Fanin; Elisabetta Menegazzo; Maria Pia Freda; David J. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB

We describe a couple of siblings who have a homozygous mutation in the ␣-sarcoglycan gene and present a striking clinical difference in their phenotype; the brother is asymptomatic, and the sister is affected with mild limb-girdle muscular dystrophy. Drug therapy with a new steroid (deflazacort) was