Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

Abstract

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE deficiency. We present data on 15 COLQ -mutant CMS carrying… (More)
DOI: 10.1016/j.nmd.2011.09.002

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