The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neuromuscular junction and result in fatiguable muscle weakness. A subgroup of CMS patients have a recessively inherited limb-girdle pattern of weakness caused by mutations in DOK7. DOK7...

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Detalles Bibliográficos
Autores principales: Cossins, J, Liu, W, Belaya, K, Maxwell, S, Oldridge, M, Lester, T, Robb, S, Beeson, D
Formato: Journal article
Lenguaje:English
Publicado: 2012