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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.
Publication status:
Published

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Authors


Cossins, J More by this author
Maxwell, S More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Journal:
Neurology
Volume:
61
Issue:
6
Pages:
826-828
Publication date:
2003-09-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:80f43e4b-2687-4c12-848d-4b13319e2d5b
Source identifiers:
241983
Local pid:
pubs:241983

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