Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy:: Clinical description and gene localization to 5q31

被引:89
作者
Feit, H
Silbergleit, A
Schneider, LB
Gutierrez, JA
Fitoussi, RP
Réyès, C
Rouleau, GA
Brais, B
Jackson, CE
Beckmann, JS
Seboun, E
机构
[1] Genethon, CNRS, URA 1922, F-91002 Evry, France
[2] Henry Ford Hosp, Dept Neurol, Detroit, MI 48202 USA
[3] Henry Ford Hosp, Dept Pathol, Detroit, MI 48202 USA
[4] Henry Ford Hosp, Dept Genet, Detroit, MI 48202 USA
[5] McGill Univ, Ctr Res Neurosci, Montreal, PQ H3A 2T5, Canada
关键词
D O I
10.1086/302166
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. To our knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal and vocal cord dysfunction (VCPDM) that has not been previously reported. We mapped the MPD2 gene for VCPDM to chromosome 5q within a 12-cM linkage interval between markers D5S458 and D5S1972 in a large pedigree (a maximum LOD score of 12.94 at a recombination fraction of 0 for D5S393) and combined genome screening and DNA pooling successfully adapted to fluorescent markers. This technique provides for the possibility of fully automated genome scans.
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收藏
页码:1732 / 1742
页数:11
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