Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Abstract:

:Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening crises. The late-onset phenotype developed in adolescence or adulthood and was initially mistaken for seronegative myasthenia gravis. Recognition of this late-onset phenotype should prevent inappropriate immunotherapy.

journal_name

Neurology

journal_title

Neurology

authors

Burke G,Cossins J,Maxwell S,Owens G,Vincent A,Robb S,Nicolle M,Hilton-Jones D,Newsom-Davis J,Palace J,Beeson D

doi

10.1212/01.wnl.0000085865.55513.ae

subject

Has Abstract

pub_date

2003-09-23 00:00:00

pages

826-8

issue

6

eissn

0028-3878

issn

1526-632X

journal_volume

61

pub_type

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