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. 1998 Dec;63(6):1732-42.
doi: 10.1086/302166.

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

H Feit  1 , A Silbergleit, L B Schneider, J A Gutierrez, R P Fitoussi, C Réyès, G A Rouleau, B Brais, C E Jackson, J S Beckmann, E Seboun
Affiliations

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

H Feit et al. Am J Hum Genet. 1998 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.

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References

    1. Am J Hum Genet. 1996 Oct;59(4):872-8 - PubMed
    1. Hum Hered. 1996 Jul-Aug;46(4):226-35 - PubMed
    1. Brain. 1996 Dec;119 ( Pt 6):1895-909 - PubMed
    1. N Engl J Med. 1997 Mar 27;336(13):905-11 - PubMed
    1. Ann Neurol. 1997 Apr;41(4):432-7 - PubMed

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