title: Congenital myopathies.
abstract: Most congenital myopathies have been defined on account of the morphological findings in enzyme histochemical preparations. In effect, the diagnosis of this group of diseases continues to be made on the histological pattern of muscle biopsies. However, progress has been made in elucidating the molecular genetic background of several of the congenital myopathies. In this updated review we address those congenital myopathies for which gene defects and mutant proteins have been found (central core disease, nemaline myopathies, desminopathy, actinopathy, certain vacuolar myopathies, and myotubular myopathy) and the other disease with central nuclei (centronuclear myopathy).
authors: Institute of Brain Research, Eberhard-Karls University, Tübingen, Germany. antje.bornemann@med.uni-tuebingen.de
authors: A
authors: A
authors: Bornemann
authors: H H
authors: HH
authors: Goebel
mesh_terms: D000199:Actins / Q000235:genetics; D002874:Chromosome Mapping; D003893:Desmin / Q000235:genetics; D006801:Humans; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000145:classification / Q000235:genetics / Q000473:pathology*; D020512:Myopathy, Central Core / Q000235:genetics / Q000473:pathology
chemical_list: D000199:Actins; D003893:Desmin