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

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.

• Authors: Sean M Garvey, Jan Senderek, Jacques S Beckmann, Eric Seboun, Charles E Jackson, Michael A Hauser
• Journal: Annals of human genetics (Ann Hum Genet) Vol. 70 Issue Pt 3 Pg. 414-6 (May 2006) ISSN: 0003-4800 [Print] England
• PMID: 16674563 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Connectin
• Cytoskeletal Proteins
• MYOT protein, human
• Microfilament Proteins
• Muscle Proteins

Topics

• Blotting, Southern
• Blotting, Western
• Connectin
• Cytoskeletal Proteins (genetics)
• DNA Mutational Analysis
• Distal Myopathies (genetics)
• Genetic Predisposition to Disease
• Humans
• Microfilament Proteins
• Muscle Proteins (genetics)
• Muscle Weakness (genetics)
• Pharyngeal Muscles
• Polymorphism, Single Nucleotide
• Vocal Cords