Journal
NEUROMUSCULAR DISORDERS
Volume 14, Issue 10, Pages 635-649Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2004.06.009
Keywords
congenital muscular dystrophy; glycosylation; dystroglycan; extracellular matrix; neuronal migration
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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.
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