Article
Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 May 2017
Cotta Ana, Paim Julia Filardi, Carvalho Elmano, Navarro Mônica Machado, Valicek Jaquelin, da-Cunha-Junior Antonio Lopes, Menezes Miriam Melo, Nunes Simone Vilela, Xavier-Neto Rafael, da Silveira Eni Braga, Costa-E-Silva Cynthia, Takata Reinaldo Issao, Vargas Antonio Pedro
Abstract excerpt
BACKGROUND: Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the absence of affected male relatives. We aimed to describe the phenotypic variability in a series of molecular-confirmed female dystrophinopathy patients. METHODS:...
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