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: | Merlini Luciano, Bertini Enrico, Mercuri Eugenio, Grumati Paolo, Fabris Marina, Sabatelli Patrizia, Urciuolo Anna, Martoni Elena, Neri Marcella, Bovolenta Matteo, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2010-03-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/11/44 |
Similar Items
-
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
by: Salvi Fabrizio, et al.
Published: (2010-04-01) -
Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
by: Luciano Merlini, et al.
Published: (2011-01-01) -
Autophagy in Skeletal Muscle Homeostasis and in Muscular Dystrophies
by: Paolo Bonaldo, et al.
Published: (2012-07-01) -
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
by: Falzarano Maria S, et al.
Published: (2008-11-01) -
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
by: Bejjani Bassem A, et al.
Published: (2010-06-01)