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Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing:: Development of a Genomic DNA Reference Material Panel

L Kalman, J Leonard, N Gerry, J Tarleton… - The Journal of Molecular …, 2011 - Elsevier
Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders
that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately
65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% ...
Cited by 1 - Related articles - All 5 versions

Nonsense mutation‐associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

KM Flanigan, DM Dunn… - Human …, 2011 - Wiley Online Library
Nonsense mutations are usually predicted to function as null alleles due to premature termination
of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin
protein, have been associated with both the severe Duchenne Muscular Dystrophy ...
Cited by 1 - Related articles - All 2 versions

[PDF] A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene

[PDF] from biomedsearch.comAT Pagnamenta, R Holt, M Yusuf, D Pinto, K Wing… - 2011 - biomedsearch.com
Abstract Autism spectrum disorder is a genetically com- plex and clinically heterogeneous neurodevelopmental
disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism
arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, ...
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Serum Transaminase Levels in Boys With Duchenne and Becker Muscular Dystrophy

[HTML] from pediatricsdigest.mobiHJ McMillan, M Gregas, BT Darras… - Pediatrics, 2011 - Am Acad Pediatrics
RESULTS We report 82 enzyme data sets from 46 patients with Duchenne muscular dystrophy
(DMD) and 9 with Becker muscular dystrophy. Our results show a linear relationship between
serum CPK and serum ALT and AST and a logarithmic relationship between serum ...
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Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

SM van Westrum, EM Hoogerwaard, L Dekker… - Neurology, 2011 - AAN Enterprises
From the Departments of Neurology (SMSvW, TSS, MdV, AJvdK), Cardiology (LD, AAMW), and
Human Genetics (NJL), and Clinical Research Unit (RJdH), Academic Medical Centre, University
of Amsterdam, Amsterdam; Department of Neurology (EMH), Rijnstate Hospital, Alysis ...
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