Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

doi:10.1016/j.ajhg.2015.10.017

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

American journal of human genetics - 3 Dec 2015

Logan Clare V, Cossins Judith, Rodríguez Cruz Pedro M, Parry David A, Maxwell Susan, Martínez-Martínez Pilar, Riepsaame Joey, Abdelhamed Zakia A, Lake Alice V R, Moran Maria, Robb Stephanie, Chow Gabriel, Sewry Caroline, Hopkins Philip M, Sheridan Eamonn, Jayawant Sandeep, Palace Jacqueline, Johnson Colin A, Beeson David

Abstract excerpt

The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission. Congenital myasthenic syndromes (CMSs) are a heterogeneous group of inherited disorders that result from impaired neuromuscular transmission,...

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PMID: 26626625
DOI: 10.1016/j.ajhg.2015.10.017
PMCID: PMC4678414

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