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Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin α2 deficiency in skin biopsy

✍ Scribed by A. Marbini; M. F. Bellanova; A. Ferrari; M. Lodesani; F. Gemignani


Publisher
Springer-Verlag
Year
1997
Tongue
English
Weight
716 KB
Volume
94
Category
Article
ISSN
0001-6322

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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