Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
Publication
, Journal Article
Garvey, SM; Senderek, J; Beckmann, JS; Seboun, E; Jackson, CE; Hauser, MA
Published in: Ann Hum Genet
May 2006
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.
Duke Scholars
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Published In
Ann Hum Genet
DOI
ISSN
0003-4800
Publication Date
May 2006
Volume
70
Issue
Pt 3
Start / End Page
414 / 416
Location
England
Related Subject Headings
- Vocal Cords
- Polymorphism, Single Nucleotide
- Pharyngeal Muscles
- Muscle Weakness
- Muscle Proteins
- Microfilament Proteins
- Humans
- Genetics & Heredity
- Genetic Predisposition to Disease
- Distal Myopathies
Citation
APA
Chicago
ICMJE
MLA
NLM
Garvey, S. M., Senderek, J., Beckmann, J. S., Seboun, E., Jackson, C. E., & Hauser, M. A. (2006). Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Ann Hum Genet, 70(Pt 3), 414–416. https://doi.org/10.1111/j.1529-8817.2005.00252.x
Garvey, Sean M., Jan Senderek, Jacques S. Beckmann, Eric Seboun, Charles E. Jackson, and Michael A. Hauser. “Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).” Ann Hum Genet 70, no. Pt 3 (May 2006): 414–16. https://doi.org/10.1111/j.1529-8817.2005.00252.x.
Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA. Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Ann Hum Genet. 2006 May;70(Pt 3):414–6.
Garvey, Sean M., et al. “Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).” Ann Hum Genet, vol. 70, no. Pt 3, May 2006, pp. 414–16. Pubmed, doi:10.1111/j.1529-8817.2005.00252.x.
Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA. Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Ann Hum Genet. 2006 May;70(Pt 3):414–416.
Published In
Ann Hum Genet
DOI
ISSN
0003-4800
Publication Date
May 2006
Volume
70
Issue
Pt 3
Start / End Page
414 / 416
Location
England
Related Subject Headings
- Vocal Cords
- Polymorphism, Single Nucleotide
- Pharyngeal Muscles
- Muscle Weakness
- Muscle Proteins
- Microfilament Proteins
- Humans
- Genetics & Heredity
- Genetic Predisposition to Disease
- Distal Myopathies