Article
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.
American journal of medical genetics. Part A - 1 Nov 2014
Imbornoni Lauren, Price Elinora T, Andrews Jennifer, Meaney F John, Ciafaloni Emma, Cunniff Christopher
Abstract excerpt
Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to...
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