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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/0022-0000(91)90021-v

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1432-1203

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Immature endplates and utrophin deficiency in con

Authors: Jörn P Sieb Simone Kraner Michael Rauch Ortrud K Steinlein
Publish Date: 2000/08/11
Volume: 107, Issue: 2, Pages: 160-164
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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 endplate ultrastructure was immature with reduced enfolding of the postsynaptic membrane In two such families we found truncating mutations of the εAChR subunit In family 1 both affected siblings were heteroallelic for a ε911delT and a εIVS4+1G→A mutation within the AChR εsubunit 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 endplate maturation including the formation of secondary synaptic clefts during ontogenesis

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