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
Neurologyjournal_title
Neurologyauthors
Burke G,Cossins J,Maxwell S,Owens G,Vincent A,Robb S,Nicolle M,Hilton-Jones D,Newsom-Davis J,Palace J,Beeson Ddoi
10.1212/01.wnl.0000085865.55513.aesubject
Has Abstractpub_date
2003-09-23 00:00:00pages
826-8issue
6eissn
0028-3878issn
1526-632Xjournal_volume
61pub_type
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