TY - JOUR
T1 - Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene
AU - Lamperti, Costanza
AU - Cagliani, Rachele
AU - Ciscato, Patrizia
AU - Moroni, Isabella
AU - Viri, Maurizio
AU - Romeo, Antonio
AU - Fagiolari, Gigliola
AU - Prelle, Alessandro
AU - Comi, Giacomo Pietro
AU - Bresolin, Nereo
AU - Moggio, Maurizio
PY - 2006/4/15
Y1 - 2006/4/15
N2 - 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 α-dystroglycan (DG) glycosylated epitope and preservation of α-dystroglycan (α-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 α-DG deficiency.
AB - 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 α-dystroglycan (DG) glycosylated epitope and preservation of α-dystroglycan (α-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 α-DG deficiency.
KW - α-Dystroglycan
KW - Congenital muscular dystrophy
KW - Fukutin-related protein
KW - Glycosylation
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U2 - 10.1016/j.jns.2005.11.024
DO - 10.1016/j.jns.2005.11.024
M3 - Article
C2 - 16386759
AN - SCOPUS:33645108739
VL - 243
SP - 47
EP - 51
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -