What causes paramyotonia in the united kingdom?

被引：52

作者：

Matthews, E. ^{[1
]}

Tan, S. V. ^{[1
]}

Fialho, D. ^{[1
]}

Sweeney, M. G. ^{[1
]}

Sud, R. ^{[1
]}

Haworth, A. ^{[1
]}

Stanley, E. ^{[1
]}

Cea, G. ^{[1
]}

Davis, M. B. ^{[1
]}

Hanna, M. G. ^{[1
]}

机构：

[1] UCL Natl Hosp Neurol & Neurosurg, Med Res Council Ctr Neuromusc Dis, Dept Mol Neurosci, Inst Neurol, London WC1N 3BG, England

来源：

NEUROLOGY | 2008年 / 70卷 / 01期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1212/01.wnl.0000287069.21162.94

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To study the clinical and genetic features in a large cohort of UK patients with sodium channel paramyotonia congenita. Methods: We conducted a UK-wide clinical and molecular genetic study of patients presenting with a phenotype suggestive of paramyotonia congenita. Results: We identified 42 affected individuals (28 kindreds). All cases met our core criteria for a clinical diagnosis of paramyotonia congenita. Seventy-five percent of patients (32 patients/20 kindreds) had SCN4A mutations. Twenty-nine subjects from 18 kindreds had exon 22 and 24 mutations, confirming these exons to be hot spots. Unexpectedly, 3 of these subjects harbored mutations previously described with potassium-aggravated myotonia (G1306A, G1306E). We identified two new mutations (R1448L and L1436P). Ten cases (8 kindreds) without mutations exhibited paramyotonia congenita with prominent pain and weakness. Conclusions: This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity.

引用

页码：50 / 53

页数：4

共 10 条

[1] A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification [J].