Journal article
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants
Hannah F Jones, Samantha J Bryen, Leigh B Waddell, Adam Bournazos, Mark Davis, Michelle A Farrar, Catriona A McLean, David R Mowat, Hugo Sampaio, Ian R Woodcock, Monique M Ryan, Kristi J Jones, Sandra T Cooper
NEUROMUSCULAR DISORDERS | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2019
Abstract
A precise genetic diagnosis of a dystrophinopathy has far-reaching implications for affected boys and their families. We present three boys with DMD single nucleotide variants associated with Becker muscular dystrophy presenting with myalgia, reduced exercise capacity, neurodevelopmental symptoms and elevated creatine kinase. The DMD variants were difficult to classify: AIII:1 a synonymous variant in exon 13 c.1602G>A, p.Lys534Lys; BIII:1 an essential splice-site variant in intron 33 c.4674+1G>A, and CII:1 a missense mutation within the cysteine-rich domain, exon 66 c.9619T>C, p.Cys3207Arg. Complementary DNA (cDNA) analysis using muscle-derived mRNA established splice-altering effects of var..
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