Reference Work Entry

Encyclopedia of Molecular Mechanisms of Disease

pp 1439-1440

Nemaline Myopathies

  • Carina Wallgren-PetterssonAffiliated withInstitute of Physiology, University of TuebingenDepartments of Medical Genetics, University of Helsinki and Folkhälsan
  • , Hans H. GoebelAffiliated withDepartment of Neuropathology, Johannes Gutenberg University Medical Center

Synonyms

Rod myopathies

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 [1].

Prevalence

No prevalence figures have been published. An estimated incidence is 0.02 per 1,000 live births [2].

Genes

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 ...

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