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Nemaline Myopathies
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Nemaline Myopathies
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.
Nemaline Myopathies. Table 1 Gene loci and modes of inheritance in nemaline myopathies
| Type |
Gene locus |
Inheritance |
Gene symbol |
Gene product |
|---|---|---|---|---|
| NEM1 |
1q21-q23 |
a.d. |