Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

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

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.

Affiliation

Quijano-Roy S; Unité de Neurologie Pédiatrique, Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond Poincaré, 92380, Garches, France. susana.quijano-roy@rpc.aphp.fr

Brain Dev ; 28(4): 232-42, 2006 May.

Article in En | MEDLINE | ID: mdl-16368217

Subject(s)

Brain/abnormalities; Genetic Predisposition to Disease/genetics; Muscular Dystrophies/complications; Muscular Dystrophies/genetics; Mutation/genetics; Nervous System Malformations/genetics; Proteins/genetics; Adolescent; Adult; Atrophy/genetics; Atrophy/pathology; Brain/pathology; Child; Child, Preschool; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Pentosyltransferases

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Collection: 01-internacional Database: MEDLINE Main subject: Brain / Proteins / Genetic Predisposition to Disease / Muscular Dystrophies / Mutation / Nervous System Malformations Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Dev Year: 2006 Type: Article Affiliation country: France

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