PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Author:

Guicheney P,Vignier N,Zhang X,He Y,Cruaud C,Frey V,Helbling-Leclerc A,Richard P,Estournet B,Merlini L,Topaloglu H,Mora M,Harpey J P,Haenggeli C A,Barois A,Hainque B,Schwartz K,Tome F M,Fardeau M,Tryggvason K

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. Congenital myopathies. In: Mastaglia FL, Lord Walton of Detchant, eds. Skeletal muscle pathology;Fardeau, M.,1992

2. The congenital muscular dystrophy;Banker, B.Q.,1994

3. 41st ENMC International Workshop on Congenital Muscular Dystrophy;Dubowitz, V.,1996

4. Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families;Pini, A.; Merlini, L.; Tome, F.M.S.; Chevallay, M.; Gobbi, G.;Brain Dev,1996

5. Congenital muscular dystrophy with merosin deficiency;Tome, F.M.S.; Evangelista, T.; Leclerc, A.;C R Acad Sci Paris,1994

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