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CNS findings in congenital muscular dystrophy 1A (with laminin alpha-2-deficiency)

✍ Scribed by Cornelia Köhler; Katharina Weigt-Usinger; Christoph M. Heyer; Charlotte Thiels; Gabriele Dekomien; Matthias Vorgerd; Thomas Lücke


Book ID
111493311
Publisher
Versita
Year
2011
Tongue
English
Weight
563 KB
Volume
2
Category
Article
ISSN
2081-3856

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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