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

Détails

ID Serval
serval:BIB_17EEDB2FCB98
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31
Périodique
American Journal of Human Genetics
Auteur⸱e⸱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)
Statut éditorial
Publié
Date de publication
12/1998
Volume
63
Numéro
6
Pages
1732-42
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
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.
Mots-clé
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
Oui
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 12:48
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