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GTR Home > Conditions/Phenotypes > Nemaline myopathy 8

Nemaline myopathy 8

Synonyms
Nemaline myopathy 8, autosomal recessive

Summary

Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: KBTBD5, NEM8, SRYP, SYRP, KLHL40
    Summary: kelch like family member 40

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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