Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita an...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Burke, G, Cossins, J, Maxwell, S, Owens, G, Vincent, A, Robb, S, Nicolle, M, Hilton-Jones, D, Newsom-Davis, J, Palace, J, Beeson, D
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2003

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