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Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency

✍ Scribed by I. Naom; M. D'Alessandro; C.A. Sewry; A. Ferlini; H. Topaloglu; V. Dubowitz; F. Muntoni


Book ID
117670740
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
128 KB
Volume
7
Category
Article
ISSN
0960-8966

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Clinical and molecular study in congenit
✍ Zivana Tezak; Paola Prandini; Marco Boscaro; Alessandra Marin; Joseph Devaney; M 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB

Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense mutations have been found in milder CMD with partial laminin alpha2