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

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, caused by mutations in genes encoding proteins that are involved in synaptic transmission and in forming and maintaining the structural integrity of NMJs.

Source: The American Journal of Human Genetics - November 25, 2015 Category: Genetics & Stem Cells Authors: Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz, David A. Parry, Susan Maxwell, Pilar Martínez-Martínez, Joey Riepsaame, Zakia A. Abdelhamed, Alice V.R. Lake, Maria Moran, Stephanie Robb, Gabriel Chow, Caroline Sewry, Philip M. Hopkins, Tags: Report Source Type: research