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Muscle & Nerve|November 16, 2007
Danon disease due to a novel splice mutation in the LAMP2 geneAmelie Nadeau, Christian Therrien, George Karpati, et al.Journal of Child Neurology|November 17, 2007
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathyAmelie Nadeau, Guy D'Anjou, Guillaume Debray, et al.The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|April 26, 2011
A population-based study of dystrophin mutations in CanadaJean K Mah, Kathryn Selby, Craig Campbell, et al.Orphanet Journal of Rare Diseases|January 27, 2016
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingSébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, et al.Pageof 1