Article
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Brain & development - 1 May 2006
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, Carlier Robert Y
Abstract excerpt
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 retardation associated with structural brain abnormalities. PATIENTS AND METHODS: We studied cerebral MRIs in twelve...
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