OLIVOPONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL INVOLVEMENT (SMA) DOES NOT LOCALIZE TO CHROMOSOME 5Q

被引：20

作者：

DUBOWITZ, V ^{[1
]}

DANIELS, RJ ^{[1
]}

DAVIES, KE ^{[1
]}

机构：

[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,OXFORD OX3 9DU,ENGLAND

来源：

NEUROMUSCULAR DISORDERS | 1995年 / 5卷 / 01期

关键词：

SPINAL MUSCULAR ATROPHY; OLIVOPONTOCEREBELLAR HYPOPLASIA; MOLECULAR GENETICS; CHROMOSOME; 5Q; WERDNIG-HOFFMANN DISEASE;

D O I：

10.1016/0960-8966(94)00043-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report two siblings with olivopontocerebellar hypoplasia in association with spinal muscular atrophy, who inherited different haplotypes from their parents in relation to the SMA gene on chromosome 5q, confirming that this syndrome is not associated with the same gene as classical SMA (Werdnig-Hoffmann disease).

引用

页码：25 / 29

页数：5

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