HMSN-III PHENOTYPE DUE TO HOMOZYGOUS EXPRESSION OF A DOMINANT HMSN-II GENE

被引：29

作者：

SGHIRLANZONI, A

PAREYSON, D

BALESTRINI, MR

BELLONE, E

BERTA, E

CIANO, C

MANDICH, P

MARAZZI, R

机构：

[1] UNIV GENOA,IST BIOL & GENET,I-16126 GENOA,ITALY

[2] IST NEUROCHIRURG C BESTA,DEPT NEUROPEDIAT,I-20133 MILAN,ITALY

[3] IST NEUROCHIRURG C BESTA,DEPT NEUROPHYSIOPATHOL,I-20133 MILAN,ITALY

来源：

NEUROLOGY | 1992年 / 42卷 / 11期

关键词：

D O I：

10.1212/WNL.42.11.2201

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe two siblings with hereditary motor and sensory neuropathy (HMSN) type III. Their parents were both affected with autosomal dominant axonal HMSN. The neuropathy in the siblings probably resulted from homozygous expression of the HMSN II gene. Together with other reports of homozygous HMSN I, this family suggests that HMSN III is heterogenous and encompasses the most severe homozygous expression of neuropathic genes.

引用

页码：2201 / 2203

页数：3

共 10 条

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[2]

HAGBERG B, 1983, DEV MED CHILD NEUROL, V25, P3

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