title: Journey into muscular dystrophies caused by abnormal glycosylation.
abstract: An increasing number of genes encoding for putative or demonstrated glycosyltransferases are being associated with muscular dystrophies of variable severity, ranging from severe congenital onset and associated structural eye and brain changes, to relatively mild forms with onset into adulthood. Five of these genes (POMT1; POMGnT1; FXRP; Fukutin; LARGE) encode for proteins involved in the glycosylation of alpha-dystroglycan and, indeed, abnormal glycosylation of this molecule is a common finding in all the respective conditions (Walker Warburg syndrome; Muscle-Eye-Brain disease; congenital muscular dystrophy type 1C and Limb girdle muscular dystrophy type 21; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D). A 6th gene, GNE, responsible for the hereditary form of inclusion body myositis, encodes for a glycosyltransferase the substrate(s) of which is, however, still unclear. This article provides an overview of the clinical, biochemical and genetic features of this group of disorders.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK. f.muntoni@imperial.ac.uk
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D004252:DNA Mutational Analysis; D049030:Dystroglycans / Q000378:metabolism*; D005838:Genotype; D006003:Glycogen / Q000378:metabolism*; D006031:Glycosylation; D016695:Glycosyltransferases / Q000235:genetics*; D006801:Humans; D018482:Muscle, Skeletal / Q000201:enzymology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype
chemical_list: D049030:Dystroglycans; D006003:Glycogen; D016695:Glycosyltransferases