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• W1974018051 abstract "Forty-two missense, truncation, or splice-site mutations of the acetylcholine receptor (AChR) subunit genes have been reported to date in patients with congenital myasthenic syndromes. Here we report a homozygous mutation, epsilon-155G --> A, in the promoter region of the AChR epsilon subunit gene that converts the Ets-binding site of the promoter region from CGGAA to CAGAA. The asymptomatic parents and brother are heterozygous and an affected sister is homozygous for epislon-155G --> A. The Ets-binding site mediates synapse specific expression of the AChR epsilon subunit gene. An identical G-to-A mutation in the mouse Ets-binding site was previously shown to decrease the binding affinity of the Ets-binding site for the GA binding protein, a transactivating factor for the Ets-binding site, and to reduce the synapse specific expression of the epsilon subunit. The decreased synaptic expression of the epsilon subunit readily accounts for the congenital myasthenic phenotype." @default.
• W1974018051 created "2016-06-24" @default.
• W1974018051 creator A5017751776 @default.
• W1974018051 creator A5020189594 @default.
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• W1974018051 date "1999-05-01" @default.
• W1974018051 modified "2023-09-25" @default.
• W1974018051 title "Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ϵ subunit gene" @default.
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• W1974018051 doi "https://doi.org/10.1016/s0960-8966(99)00007-3" @default.
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