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The congenital muscular dystrophies in 2004: a century of exciting progress

Muntoni, F; Voit, T; (2004) The congenital muscular dystrophies in 2004: a century of exciting progress. NEUROMUSCULAR DISORD , 14 (10) 635 - 649. 10.1016/j.nmd.2004.06.009.

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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. (C) 2004 Elsevier B.V. All rights reserved.

Type: Article
Title: The congenital muscular dystrophies in 2004: a century of exciting progress
DOI: 10.1016/j.nmd.2004.06.009
Keywords: congenital muscular dystrophy, glycosylation, dystroglycan, extracellular matrix, neuronal migration, LAMININ ALPHA-2 CHAIN, WALKER-WARBURG-SYNDROME, EYE-BRAIN DISEASE, ENMC INTERNATIONAL WORKSHOP, COLLAGEN-VI DEFICIENCY, SELENOPROTEIN-N GENE, MEROSIN DEFICIENCY, SKELETAL-MUSCLE, PROTEIN GENE, NEURONAL MIGRATION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/167445
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