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P2.9 LMNA-related congenital muscular dystrophy: Clinical, pathological and molecular findings

✍ Scribed by M.S. Monges; F. Lubieniecki; S. Quijano-Roy; M. Saccoliti; N.B. Romero; P. Richard; A.L. Taratuto

Book ID
116795014
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
48 KB
Volume
21
Category
Article
ISSN
0960-8966

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Clinical and molecular study in congenit
Clinical and molecular study in congenital muscular dystrophy with partial laminin Ξ±2 (LAMA2) deficiency
✍ Zivana Tezak; Paola Prandini; Marco Boscaro; Alessandra Marin; Joseph Devaney; M πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 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