Kongenitale Strukturmyopathien: Eine Übersicht

Research output: Contribution to journalReview articleContributedpeer-review


  • S. Lutz - , University of Duisburg-Essen (Author)
  • B. Stiegler - , University of Duisburg-Essen (Author)
  • W. Kress - , University of Würzburg (Author)
  • M. Von Der Hagen - , Department of Paediatrics, Division of Neuropediatrics (Author)
  • U. Schara - , University of Duisburg-Essen (Author)


Congenital myopathies are a heterogeneous group of rare neuromuscular disorders, sometimes presenting as floppy infant syndrome but generally progressing slowly. They usually begin at birth or in childhood, rarely in adulthood. Congenital myopathies are classified according to their histological, immunohistological, and ultrastructural pattern and the underlying genetic defect. A growing number of causative genes have been identified in the last years. Several congenital myopathies reveal a remarkable phenotypic overlap. The most common congenital myopathies are the nemaline myopathies, core myopathies, centronuclear myopathies, and congenital fibre-type disproportion.

Translated title of the contribution
Congenital myopathies
An overview


Original languageGerman
Pages (from-to)316-321
Number of pages6
JournalMedizinische Genetik
Issue number3
Publication statusPublished - Sept 2009


ASJC Scopus subject areas


  • Central core disease, Congenital fibre-type disproportion, Congenital myopathies, Myotubular myopathy, Nemaline myopathy