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

Détails

ID Serval
serval:BIB_A5D48B9A5F92
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)
Périodique
Annals of Human Genetics
Auteur(s)
Garvey  S. M., Senderek  J., Beckmann  J. S., Seboun  E., Jackson  C. E., Hauser  M. A.
ISSN
0003-4800 (Print)
Statut éditorial
Publié
Date de publication
05/2006
Volume
70
Numéro
Pt 3
Pages
414-6
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
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.
Mots-clé
Blotting, Southern Blotting, Western Cytoskeletal Proteins/*genetics DNA Mutational Analysis Distal Myopathies/*genetics Genetic Predisposition to Disease Humans Muscle Proteins/*genetics Muscle Weakness/*genetics *Pharyngeal Muscles Polymorphism, Single Nucleotide *Vocal Cords
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 16:10
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