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The American Journal of Human Genetics
Article
License: Elsevier Non-Commercial
Data sources: UnpayWall
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The American Journal of Human Genetics
Article . 1998
License: Elsevier Non-Commercial
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The American Journal of Human Genetics
Article . 1998 . Peer-reviewed
License: Elsevier Non-Commercial
Data sources: Crossref
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Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

Authors: Feit, Howard; Silbergleit, Alice; Schneider, Lori B.; Gutierrez, Jorge A.; Fitoussi, Reine-Paule; Réyès, Cécile; Rouleau, Guy A.; +4 Authors

Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

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, Male, Distal myopathy, Vocal Cords, Muscular Diseases, Genetics, Humans, Genetics(clinical), Muscle, Skeletal, Fluorescent Dyes, Genes, Dominant, Muscle Weakness, Linkage, Genome, Human, Chromosome Mapping, Middle Aged, Pedigree, Haplotypes, Chromosome 5q31, Pharyngeal Muscles, Chromosomes, Human, Pair 5, Female, DNA pooling, Lod Score, Microsatellite Repeats

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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    126
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
126
Top 10%
Top 10%
Top 10%
hybrid