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Article

Symptomatic dystrophinopathies in female children.

Neuromuscular disorders : NMD - 1 Mar 2011

Seemann Natashia, Selby Kathy, McAdam Laura, Biggar Doug, Kolski Hanna, Goobie Sharan, Yoon Grace, Campbell Craig

Abstract excerpt

Although manifesting female carriers of dystrophinopathies have been documented in adults, there are few reports of females presenting with symptomatic dystrophinopathies during childhood. The Canadian Pediatric Neuromuscular Group identified and characterized nine cases of female children 16 years or younger with genetically and/or histologically confirmed symptomatic dystrophinopathy, with an age range of 2-10...

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Identifiers

PMID: 21186124
DOI: 10.1016/j.nmd.2010.11.001

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