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

Details

Serval ID
serval:BIB_17EEDB2FCB98
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31
Journal
American Journal of Human Genetics
Author(s)
Feit  H., Silbergleit  A., Schneider  L. B., Gutierrez  J. A., Fitoussi  R. P., Reyes  C., Rouleau  G. A., Brais  B., Jackson  C. E., Beckmann  J. S., Seboun  E.
ISSN
0002-9297 (Print)
Publication state
Published
Issued date
12/1998
Volume
63
Number
6
Pages
1732-42
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Abstract
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.
Keywords
Adult Chromosome Mapping Chromosomes, Human, Pair 5/*genetics Female Fluorescent Dyes *Genes, Dominant Genome, Human Haplotypes/genetics Humans Lod Score Male Microsatellite Repeats/genetics Middle Aged Muscle Weakness/*genetics/pathology/physiopathology Muscle, Skeletal/pathology/physiopathology Muscular Diseases/*genetics/pathology/physiopathology Pedigree Pharyngeal Muscles/*physiopathology Vocal Cords/pathology/*physiopathology
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 17:18
Last modification date
20/08/2019 13:48
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