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Abnormalities in α-, β- and γ-sarcoglycan in patients with limb-girdle muscular dystrophy

✍ Scribed by C.A. Sewry; J. Taylor; L.V.B. Anderson; E. Ozawa; R. Pogue; F. Piccolo; K. Bushby; V. Dubowitz; F. Muntoni

Book ID
117670535
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
602 KB
Volume
6
Category
Article
ISSN
0960-8966

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Homozygous α-sarcoglycan mutation in two
Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb–girdle muscular dystrophy patient
✍ 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