Kongenitale Strukturmyopathien: Eine Übersicht
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Contributors
Abstract
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 |
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Details
Original language | German |
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Pages (from-to) | 316-321 |
Number of pages | 6 |
Journal | Medizinische Genetik |
Volume | 21 |
Issue number | 3 |
Publication status | Published - Sept 2009 |
Peer-reviewed | Yes |
Keywords
ASJC Scopus subject areas
Keywords
- Central core disease, Congenital fibre-type disproportion, Congenital myopathies, Myotubular myopathy, Nemaline myopathy