Article
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
Annals of human genetics - 1 May 2006
Garvey Sean M, Senderek Jan, Beckmann Jacques S, Seboun Eric, Jackson Charles E, Hauser Michael A
Abstract excerpt
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...
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