title: The congenital muscular dystrophies in 2004: a century of exciting progress.
abstract: The congenital muscular dystrophies are a heterogeneous group of inherited disorders. The clinical features range from severe and often early fatal disorders to relatively mild conditions compatible with survival into adult life. The recent advances in the genetic basis of congenital muscular dystrophies have allowed to significantly improve our understanding of their pathogenesis and clinical diversity. These advances have also allowed to classify these forms according to a combination of clinical features and primary biochemical defects. In this review we present how the congenital muscular dystrophies field has evolved over the last decade from a clinical and genetic point of view.
authors.affiliation: Department of Paediatrics and Neonatal, Dubowitz Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK. fmuntoni@ic.ac.uk
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
mesh_terms: D001921:Brain / Q000473:pathology*; D002874:Chromosome Mapping; D049030:Dystroglycans / Q000235:genetics; D058851:GPI-Linked Proteins; D005799:Genes, Dominant; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008954:Models, Biological; D009124:Muscle Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000145:classification / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins; D000075385:Netrins
chemical_list: D058851:GPI-Linked Proteins; D006023:Glycoproteins; D009124:Muscle Proteins; C463083:NTNG2 protein, human; D009419:Nerve Tissue Proteins; D000075385:Netrins; D049030:Dystroglycans