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
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
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 16:18
Last modification date
20/08/2019 12:48