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GTR Home > Conditions/Phenotypes > Nemaline myopathy 10

Nemaline myopathy 10

Summary

Nemaline myopathy-10 (NEM10) is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). [from OMIM]

Available tests

21 tests are in the database for this condition.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NEM10, LMOD3
    Summary: leiomodin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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