Mechanistic diversity underlying fast channel congenital myasthenic syndromes.

Abstract:

:A host of missense mutations in muscle nicotinic receptor subunits have been identified as the cause of congenital myasthenic syndromes (CMS). Two classes of CMS phenotypes have been identified: slow channel myasthenic syndromes (SCCMSs) and fast channel myasthenic syndromes (FCCMSs). Although both have similar phenotypic consequences, they are physiologic opposites. Expression of the FCCMS phenotype requires the missense mutation to be accompanied by a second mutation, either a null or a missense mutation, in the second allele encoding the same receptor subunit. This seemingly rare scenario has arisen with surprisingly high incidence over the past few years, and analyses of the syndromes have revealed a diverse array of mechanisms underlying the pathology. This review focuses on new mechanisms underlying the FCCMS.

journal_name

Ann N Y Acad Sci

authors

Sine SM,Wang HL,Ohno K,Shen XM,Lee WY,Engel AG

doi

10.1196/annals.1254.015

subject

Has Abstract

pub_date

2003-09-01 00:00:00

pages

128-37

eissn

0077-8923

issn

1749-6632

journal_volume

998

pub_type

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