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Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)
Author(s) -
Garvey Sean M.,
Senderek Jan,
Beckmann Jacques S.,
Seboun Eric,
Jackson Charles E.,
Hauser Michael A.
Publication year - 2006
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1529-8817.2005.00252.x
Subject(s) - biology , myopathy , candidate gene , gene , genetics
Summary 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.