ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract. Congenital myasthenic syndromes (CMS) are inborn disorders due to presynaptic, synaptic, or postsynaptic defects of neuromuscular transmission. Some previously described kinships with typical signs of CMS showed a marked deficiency of acetylcholine receptors (AChR) and utrophin at the neuromuscular junctions. Additionally, the end-plate ultrastructure was immature, with reduced enfolding of the postsynaptic membrane. In two such families, we found truncating mutations of the ε-AChR subunit. In family 1, both affected siblings were heteroallelic for a ε911delT and a εIVS4+1G→A mutation within the AChR ε-subunit gene (CHRNE). In the affected member of family 2, a ε1030delC mutation and a previously described εR64X mutation were found. These deleterious εAChR mutations not only result in AChR deficiency, but also affect end-plate maturation, including the formation of secondary synaptic clefts during ontogenesis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004390000359
Permalink