ALLELIC HETEROGENEITY IN HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-IA (CHARCOT-MARIE-TOOTH DISEASE TYPE-1A)

被引：28

作者：

HOOGENDIJK, JE ^{[1
]}

JANSSEN, EAM ^{[1
]}

GABREELSFESTEN, AAWM ^{[1
]}

HENSELS, GW ^{[1
]}

JOOSTEN, EMG ^{[1
]}

GABREELS, FJM ^{[1
]}

ZORN, I ^{[1
]}

VALENTIJN, LJ ^{[1
]}

BAAS, F ^{[1
]}

DEVISSER, BWO ^{[1
]}

DEVISSER, M ^{[1
]}

BOLHUIS, PA ^{[1
]}

机构：

[1] UNIV HOSP NIJMEGEN,INST NEUROL,NIJMEGEN,NETHERLANDS

来源：

NEUROLOGY | 1993年 / 43卷 / 05期

关键词：

D O I：

10.1212/WNL.43.5.1010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN Ia locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene.

引用

页码：1010 / 1015

页数：6

共 38 条

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