Inherited disorders of the neuromuscular junction: an update.

Journal article

Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strategies for these increasingly heterogeneous disorders. The discovery of mutations associated with the N-glycosylation pathway and in the family of serine peptidases has shown that causative genes enc...

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Authors: Rodríguez Cruz, P; Palace, J; Beeson, D

• Publication status: Published
• Publisher: Dr. Dietrich Steinkopff Verlag GmbH and Co. KG
• Journal: Journal of neurology
• Volume: 261
• Issue: 11
• Pages: 2234-2243
• Publication date: 2014-11-01
• DOI: 10.1007/s00415-014-7520-7
• EISSN: 1432-1459
• ISSN: 0340-5354
• Language: English
• Keywords: Neuromuscular junction; Congenital myopathies; Agrin; Congenital myasthenic syndromes; Congenital myasthenia; Prolyl-endopeptidase-like gene (PREPL) deficiency; Salbutamol; Ephedrine; N-glycosylation pathway