Article
A population-based study of dystrophin mutations in Canada.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 May 2011
Mah Jean K, Selby Kathryn, Campbell Craig, Nadeau Amelie, Tarnopolsky Mark, McCormick Anna, Dooley Joseph M, Kolski Hanna, Skalsky Andrew J, Smith R Garth, Buckley David, Ray Peter N, Yoon Grace
Abstract excerpt
INTRODUCTION: We carried out a population-based study of dystrophin mutations in patients followed by members of the Canadian Paediatric Neuromuscular Group (CPNG) over a ten-year period. OBJECTIVES: We aimed to describe the changes in diagnostic testing for dystrophinopathy and to determine the frequency of dystrophin mutations from 2000 to 2009. METHODS: De-identified data containing the clinical phenotypes,...
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