Valérie Allamand
Institut National de la Santé et de la Recherche Médicale
U582, Institut de Myologie
IFR 14
France
Name/email consistency: high
- A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. Allamand, V., Richard, P., Lescure, A., Ledeuil, C., Desjardin, D., Petit, N., Gartioux, C., Ferreiro, A., Krol, A., Pellegrini, N., Urtizberea, J.A., Guicheney, P. EMBO Rep. (2006)
- Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Allamand, V., Guicheney, P. Eur. J. Hum. Genet. (2002)