PROGRESSIVE MYOCLONUS EPILEPSY OF UNVERRICHT-LUNDBORG TYPE - A CLINICAL AND MOLECULAR-GENETIC STUDY OF A FAMILY FROM THE UNITED-STATES WITH 4 AFFECTED SIBS

被引：20

作者：

LEHESJOKI, AE

ELDRIDGE, R

ELDRIDGE, J

WILDER, BJ

DELACHAPELLE, A

机构：

[1] FOLKHALSAN INST GENET,HELSINKI,FINLAND

[2] NCI,CLIN EPIDEMIOL BRANCH,CLIN GENET SECT,BETHESDA,MD 20892

[3] NCI,BIOCHEM LAB,BETHESDA,MD 20892

[4] VET ADM HOSP MED CTR,GAINESVILLE,FL

[5] UNIV FLORIDA,COLL MED,GAINESVILLE,FL 32611

来源：

NEUROLOGY | 1993年 / 43卷 / 11期

关键词：

D O I：

10.1212/WNL.43.11.2384

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe clinical and molecular genetic data on a family from the United States in which four of five sibs are affected with progressive myoclonus epilepsy of Unverricht-Lundborg type. The gene for this disorder (EPM1) has previously been mapped to the distal region of chromosome 21. Molecular genetic results suggest that the disease gene in this family is linked to the same region of chromosome 21. Crossover events in the family help refine the gene localization by placing EPM1 between loci CBS and D21S112.

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页码：2384 / 2386

页数：3

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