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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.