Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

Introduction: FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I). Intelligence and brain imaging have been previously reported as being normal in FKRP-associated muscular dystrophy, except in rare cases presenting with mental retardat...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2006-05, Vol.28 (4), p.232-242
Hauptverfasser:	Quijano-Roy, Susana, Martí-Carrera, Itxaso, Makri, Samira, Mayer, Michèle, Maugenre, Svetlana, Richard, Pascale, Berard, Carole, Viollet, Louis, Leheup, Bruno, Guicheney, Pascale, Pinard, Jean-Marc, Estournet, Brigitte, Y. Carlier, Robert
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Alpha-dystroglycan Atrophy - genetics Atrophy - pathology Brain - abnormalities Brain - pathology Brain MRI Child Child, Preschool Congenital muscular dystrophy Female FKRP Genetic Predisposition to Disease - genetics Humans Infant Magnetic Resonance Imaging Male Mental retardation Muscular Dystrophies - complications Muscular Dystrophies - genetics Mutation - genetics Nervous System Malformations - genetics Proteins - genetics
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