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Article

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

9 Jan 2013

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis, upward gaze palsy...

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PMID: 23326516
DOI: 10.1371/journal.pone.0053826

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