EVIDENCE OF GENETIC-HETEROGENEITY AMONG THE NONDYSTROPHIC MYOTONIAS

被引：7

作者：

PTACEK, LJ

ZITER, FA

ROBERTS, JW

LEPPERT, MF

机构：

[1] UNIV UTAH,SCH MED,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132

[2] UNIV UTAH,SCH MED,DEPT HUMAN GENET,SALT LAKE CITY,UT 84132

[3] UNIV UTAH,DEPT PEDIAT,SALT LAKE CITY,UT 84112

来源：

NEUROLOGY | 1992年 / 42卷 / 05期

关键词：

D O I：

10.1212/WNL.42.5.1046

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Recent in vitro electrophysiologic studies have demonstrated abnormal sodium channel gating in muscle from patients with Thomsen's disease and have called the chloride hypothesis into question. Abnormal sodium channel function, like myotonia, is a feature common to Thomsen's disease and several myotonias that are genetically linked to a chromosome-17q sodium channel locus. We present a pedigree segregating an allele for Thomsen's disease that is unlinked to this sodium channel locus, thus constituting evidence of genetic heterogeneity among the nondystrophic myotonias.

引用

页码：1046 / 1048

页数：3

共 16 条

[11]

PTACEK LJ, 1991, AM J HUM GENET, V49, P851

[12]

PTACEK LJ, 1991, AM J HUM GENET, V49, P378

[13]

RICKER K, 1990, ARCH NEUROL-CHICAGO, V47, P269

[14]

Thomsen, 1876, ARCH PSYCHIAT NERVEN, V6, P702, DOI DOI 10.1007/BF02164912

[15] PRIMARY STRUCTURE AND FUNCTIONAL EXPRESSION OF A MAMMALIAN SKELETAL-MUSCLE SODIUM-CHANNEL [J].

TRIMMER, JS ;

COOPERMAN, SS ;

TOMIKO, SA ;

ZHOU, JY ;

CREAN, SM ;

BOYLE, MB ;

KALLEN, RG ;

SHENG, ZH ;

BARCHI, RL ;

SIGWORTH, FJ ;

GOODMAN, RH ;

AGNEW, WS ;

MANDEL, G .

NEURON, 1989, 3 (01) :33-49

[16] ACETAZOLAMIDE-RESPONSIVE MYOTONIA CONGENITA [J].

TRUDELL, RG ;

KAISER, KK ;

GRIGGS, RC .

NEUROLOGY, 1987, 37 (03) :488-491

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