Article
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Human molecular genetics - 1 Sept 2012
Cossins Judith, Liu Wei Wei, Belaya Katsiaryna, Maxwell Susan, Oldridge Michael, Lester Tracy, Robb Stephanie, Beeson David
Abstract excerpt
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 encodes DOK7, an adaptor protein that is expressed in the skeletal muscle and heart and that is essential for the...
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