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 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.