Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
<p>Abstract</p> <p>Background</p> <p>Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2010-03-01
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Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/11/44 |