Congenital myasthenic syndromes and myasthenia
COL13A1 is a membrane protein expressed at the human neuromuscular junction and cleaved via ectodomain shedding into a soluble form that is part of the synaptic basal lamina. In recent years, we have identified that mutations in COL13A1 underlay a novel subtype of congenital myasthenic syndrome highlighting the importance of collagen XIII in the muscle endplate cytoarchitecture and neurotransmission, and the crucial role of extra-cellular matrix proteins, other than those in the agrin pathway, in the formation and maintenance of the synapse.
Source: Neuromuscular Disorders - Category: Neurology Authors: P. Rodriguez Cruz, J. Palace, D. Beeson Source Type: research