Article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
JAMA neurology - 1 Jun 2016
Cornett Kayla M D, Menezes Manoj P, Bray Paula, Halaki Mark, Shy Rosemary R, Yum Sabrina W, Estilow Timothy, Moroni Isabella, Foscan Maria, Pagliano Emanuela, Pareyson Davide, Laurá Matilde, Bhandari Trupti, Muntoni Francesco, Reilly Mary M, Finkel Richard S, Sowden Janet, Eichinger Katy J, Herrmann David N, Shy Michael E, Burns Joshua
Abstract excerpt
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. OBJECTIVE: To assess the variability of disease severity in a large cohort of children and adolescents with CMT. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional study was conducted among 520 children and adolescents aged 3 to 20 years at 8...
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