Details

Autor(en) / Beteiligte

• Garvey, Sean M.
• Senderek, Jan
• Beckmann, Jacques S.
• Seboun, Eric
• Jackson, Charles E.
• Hauser, Michael A.

Titel

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

Ist Teil von

• Annals of human genetics, 2006-05, Vol.70 (3), p.414-416

Ort / Verlag

350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK: Blackwell Publishing, Inc

Erscheinungsjahr

2006

Quelle

Wiley Online Library All Journals

Beschreibungen/Notizen

• 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.