Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Clement, Emma; Mercuri, Eugenio; Godfrey, Caroline; Smith, Janine; Robb, Stephanie; Kinali, Maria; Straub, Volker; Bushby, Kate; Manzur, Adnan; Talim, Beril; Cowan, Frances; Quinlivan, Ros; Klein, Andrea; Longman, Cheryl; McWilliam, Robert; Topaloglu, Haluk; Mein, Rachael; Abbs, Stephen; North, Kathryn; Barkovich, A James; Rutherford, Mary; Muntoni, Francesco

Clement, Emma; Mercuri, Eugenio; Godfrey, Caroline; Smith, Janine; Robb, Stephanie; Kinali, Maria; Straub, Volker; Bushby, Kate; Manzur, Adnan; Talim, Beril; Cowan, Frances; Quinlivan, Ros; Klein, Andrea; Longman, Cheryl; McWilliam, Robert; Topaloglu, Haluk; Mein, Rachael; Abbs, Stephen; North, Kathryn; Barkovich, A James; Rutherford, Mary; Muntoni, Francesco.

Affiliation

Clement E; Dubowitz Neuromuscular Unit, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.

Ann Neurol ; 64(5): 573-82, 2008 Nov.

Article in En | MEDLINE | ID: mdl-19067344

Subject(s)

Brain/abnormalities; Dystroglycans/metabolism; Muscular Dystrophies/complications; Muscular Dystrophies/genetics; Nervous System Malformations/diagnosis; Nervous System Malformations/genetics; Adolescent; Brain/metabolism; Child; Child, Preschool; Genetic Predisposition to Disease/genetics; Glycosylation; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Mannosyltransferases/genetics; Membrane Proteins/genetics; Muscular Dystrophies/metabolism; Mutation/genetics; N-Acetylglucosaminyltransferases/genetics; Nervous System Malformations/metabolism; Phenotype

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Full text: 1 Database: MEDLINE Main subject: Brain / Dystroglycans / Muscular Dystrophies / Nervous System Malformations Limits: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Language: En Journal: Ann Neurol Year: 2008 Type: Article Affiliation country: United kingdom

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