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- Title
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
- Authors
Garvey, Sean M; Senderek, Jan; Beckmann, Jacques S; Seboun, Eric; Jackson, Charles E; Hauser, Michael A
- Abstract
Myotilin (MYOT) is a promising candidate gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM, also known as MPD2). Located within the minimum VCPDM candidate interval, myotilin mutations also cause a similarly progressive and adult-onset muscle disease. We examined myotilin in VCPDM patients by sequence analysis, RT-PCR, Southern blotting, and western blotting. We detected no defects in the myotilin gene, transcript, or protein in VCPDM. We also report several useful SNPs and STRs for the analysis of myotilin in muscle diseases of suspected, yet unknown genetic origin. We conclude that MYOT mutations likely are not a cause of VCPDM.
- Publication
Annals of human genetics, 2006, Vol 70, Issue Pt 3, p414
- ISSN
0003-4800
- Publication type
Journal Article
- DOI
10.1111/j.1529-8817.2005.00252.x