Rapsyn mutations in hereditary myasthenia - Distinct early- and late-onset phenotypes

被引：93

作者：

Burke, G

Cossins, J

Maxwell, S

Owens, G

Vincent, A

Robb, S

Nicolle, M

Hilton-Jones, D

Newsom-Davis, J

Palace, J

Beeson, D

机构：

[1] Univ Oxford, Dept Clin Neurol, Oxford OX1 2JD, England

[2] Univ Oxford, Neurosci Grp, Oxford OX1 2JD, England

[3] Univ Oxford, Weatherall Inst Mol Med, Dept Clin Neurol, Oxford OX1 2JD, England

[4] Guys & St Thomas Hosp, Dept Paediat Neurol, London SE1 9RT, England

[5] Univ Western Ontario, Dept Clin Neurol Sci, London, England

来源：

NEUROLOGY | 2003年 / 61卷 / 06期

关键词：

D O I：

10.1212/01.WNL.0000085865.55513.AE

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

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页码：826 / 828

页数：3

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