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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron: Cossins, J, Liu, W, Belaya, K, Maxwell, S, Oldridge, M, Lester, T, Robb, S, Beeson, D
Fformat: Journal article
Iaith:English
Cyhoeddwyd: 2012