Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome-Reference-Cited by-同舟云学术

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

Published:1997-05-01 Issue:5 Volume:6 Page:767-774
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Croxen R.,Newland C.,Beeson D.,Oosterhuis H.,Chauplannaz G.,Vincent A.,Newsom-Davis J.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference38 articles.

1. Genes at the junction—candidates for congenital myasthenic syndromes

2. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

3. A leucine‐to‐phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow‐channel syndrome

4. A ?-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

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