- Carina Wallgren-PetterssonAffiliated withDepartments of Medical Genetics, University of Helsinki and Folkhälsan
- , Hans H. GoebelAffiliated withDepartment of Neuropathology, Johannes Gutenberg University Medical Center
Definition and Characteristics
Autosomal-recessive or autosomal-dominant congenital myopathies marked by generalized muscle weakness and the formation of nemaline bodies/rods in muscle fibers caused by mutations in at least six different genes .
No prevalence figures have been published. An estimated incidence is 0.02 per 1,000 live births .
So far, five different genes have been identified as being responsible for nemaline myopathies, NEM 1–6, (Table 1). In addition, two loci have been identified for the rare core-rod myopathies, where both cores and rods can be found in the muscle fibers.
Molecular and Systemic Pathophysiology
Nemaline myopathies are considered a heterogeneous group of disorders which may be classified according to clinical features as encompassing six different types. Nemaline myopathies have been linked to at least six different loci, NE ...
Reference Work Entry Metrics
- Nemaline Myopathies
- Reference Work Title
- Encyclopedia of Molecular Mechanisms of Disease
- pp 1439-1440
- Print ISBN
- Online ISBN
- Springer Berlin Heidelberg
- Copyright Holder
- Springer-Verlag GmbH Berlin Heidelberg
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- Editor Affiliations
- 1. Institute of Physiology, University of Tuebingen
- Author Affiliations
- 1. Departments of Medical Genetics, University of Helsinki and Folkhälsan, Helsinki, Finland
- 2. Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany
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