Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)

Authors: Garvey, Sean M.; Senderek, Jan¹; Beckmann, Jacques S.²; Seboun, Eric³; Jackson, Charles E.⁴; Hauser, Michael A.⁵

Source: Annals of Human Genetics, Volume 70, Number 3, May 2006 , pp. 414-416(3)

Publisher: Wiley-Blackwell

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Abstract:

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.

Keywords: Myotilin; LGMD1A; VCPDM; Muscular dystrophy

Document Type: Short communication

DOI: http://dx.doi.org/10.1111/j.1529-8817.2005.00252.x

Affiliations: 1: Aachen University, Aachen, Germany 2: Weizmann Institute, Rehovot, Israel 3: Université Pierre & Marie Curie, Paris, France 4: Department of Medicine, Scott & White Memorial Hospital, Temple, TX, USA 5: Center for Human Genetics, Duke University, Durham, NC, USA

Publication date: 2006-05-01