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GTR Home > Conditions/Phenotypes > Nemaline myopathy 9

Nemaline myopathy 9

Summary

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KBTBD10, Krp1, SARCOSIN, KLHL41
    Summary: kelch like family member 41

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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