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A Population-Based Study of Dystrophin Mutations...
Journal article

A Population-Based Study of Dystrophin Mutations in Canada

Abstract

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.

Authors

Mah JK; Selby K; Campbell C; Nadeau A; Tarnopolsky M; McCormick A; Dooley JM; Kolski H; Skalsky AJ; Smith RG

Journal

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, Vol. 38, No. 3, pp. 465–474

Publisher

Cambridge University Press (CUP)

Publication Date

May 2011

DOI

10.1017/s0317167100011896

ISSN

0317-1671