title: Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.
abstract: Congenital muscular dystrophies (CMD) are autosomal recessive infantile disorders characterized by dystrophic changes at muscle biopsy and contractures. Central nervous system (CNS) abnormalities associated with mental retardation are often present. We describe a patient affected with muscle weakness, psychomotor developmental delay and normal brain MRI. Muscle biopsy showed complete absence of the alpha-dystroglycan (DG) glycosylated epitope and preservation of alpha-dystroglycan (alpha-DG) protein core. The analysis of FKRP, LARGE, POMT1 and POMGnT1 genes did not show any pathogenic mutations, suggesting that at least another gene may account for CMD with secondary glycosylated alpha-DG deficiency.
authors.affiliation: Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unita' Operativa Neurologia, Fondazione I.R.C.C.S. Ospedale Maggiore Policlinico- Mangiagalli e Regina Elena, University of Milan, Milan, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
authors.forename: Rachele
authors.initials: R
authors.lastname: Cagliani
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ciscato
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Viri
authors.forename: Antonio
authors.initials: A
authors.lastname: Romeo
authors.forename: Gigliola
authors.initials: G
authors.lastname: Fagiolari
authors.forename: Alessandro
authors.initials: A
authors.lastname: Prelle
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D049030:Dystroglycans / Q000378:metabolism*; D000939:Epitopes / Q000737:chemistry / Q000378:metabolism; D005808:Genes, Recessive / Q000235:genetics*; D005820:Genetic Testing; D006031:Glycosylation; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics
chemical_list: D000939:Epitopes; D009363:Neoplasm Proteins; D011506:Proteins; D049030:Dystroglycans; C117674:LARGE1 protein, human; D008364:Mannosyltransferases; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase; C082696:protein O-mannosyltransferase; C443107:FKRP protein, human; D010430:Pentosyltransferases