ABSTRACT
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders a number of which have recently been shown to be associated with mutations in the genes encoding for either known or putative glycosyltransferases. These include Fukuyama CMD, Muscle-Eye-Brain disease and Walker-Warburg syndrome, which are associated with eye abnormalities and neuronal migration defects, due to mutations in jukutin , PO M G nTl and POMT1 respectively, while mutations in the fuk u tin -re la tedp ro te in (FKRP) gene causes congenital muscular dystrophy 1C a form that typically lacks brain in volvement. In addition another putative glycosyltransferase, Large, is mutated in the myodys trophy mouse and the human homologue of this gene was recendy shown to be mutated in a patient with a form of congenital muscular dystrophy named MDC1D. All of these conditions are associated with the hypoglycosylation of OC-dystroglycan thus identifying a new pathoge netic mechanism in the muscular dystrophies.
