Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Garvey, SM; Senderek, J; Beckmann, JS; Seboun, E; Jackson, CE; Hauser, MA

Published Date

  • May 2006

Published In

Volume / Issue

  • 70 / Pt 3

Start / End Page

  • 414 - 416

PubMed ID

  • 16674563

International Standard Serial Number (ISSN)

  • 0003-4800

Digital Object Identifier (DOI)

  • 10.1111/j.1529-8817.2005.00252.x

Language

  • eng

Conference Location

  • England