Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.
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.
Lamperti
Costanza
C
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.
Cagliani
Rachele
R
Ciscato
Patrizia
P
Moroni
Isabella
I
Viri
Maurizio
M
Romeo
Antonio
A
Fagiolari
Gigliola
G
Prelle
Alessandro
A
Comi
Giacomo Pietro
GP
Bresolin
Nereo
N
Moggio
Maurizio
M
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
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