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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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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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Journal:
Neurology
Volume:
61
Issue:
6
Pages:
826-828
Publication date:
2003-09-01
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
Source identifiers:
241983

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