CHARCOT-MARIE-TOOTH NEUROPATHY RELATED TO CHROMOSOME-1

被引：10

作者：

IONASESCU, VV ^{[1
]}

TROFATTER, J ^{[1
]}

HAINES, JL ^{[1
]}

IONASESCU, R ^{[1
]}

SEARBY, C ^{[1
]}

机构：

[1] MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET LAB,BOSTON,MA 02114

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 05期

关键词：

DEMYELINATING NEUROPATHY; CHROMOSOME-1Q; CMT SUBTYPES; LINKAGE;

D O I：

10.1002/ajmg.1320420521

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

One family with documented male-to-male transmission of Charcot-Marie-Tooth (CMT) neuropathy was studied clinically and by genetic linkage. Patients had progressive distal weakness and atrophy, areflexia, and distal sensory loss, but early onset (before age 3 years) in all 5 cases, and phrenic nerve involvement in the propositus (a 39-year-old woman) requiring CPAP ventilator support during the night. Motor-nerve conduction velocities (MNCVs) were significantly slow, consistent with severe demyelinating neuropathy. Electromyography (EMG) data were normal. Two-point and multipoint linkage analyses strongly suggested the presence of a CMT gene on chromosome 1q. A maximum multipoint lod score of 2.70 was obtained at MUC1 (theta = 0), with the locus order centromere-MUC1-SPTA1-Fc(gamma)RII-AT3-telomere. Multipoint linkage analysis excluded the CMT locus from chromosome 17 markers in this family.

引用

页码：728 / 732

页数：5

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