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MUSK, a new target for mutations causing congenital myasthenic syndrome

Archive ouverte | Chevessier, Frédéric | CCSD

International audience. We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified ...

Caractérisation physiopathologique des syndromes myasthéniques congénitaux : l'exemple de mutations dans le gène MUSK

Archive ouverte | Chevessier, Frédéric | CCSD

International audience

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Archive ouverte | Ben Ammar, Asma | CCSD

International audience. Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for pro...

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