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GTR Home > Conditions/Phenotypes > Bethlem myopathy 2

Bethlem myopathy 2

Summary

Bethlem myopathy-2 (BTHLM2) is characterized by congenital hypotonia and myopathy. Motor development is delayed, but muscle strength improves with age, and patients are able to achieve ambulation. Proximal joint contractures that improve over time, as well as joint hyperlaxity, are also present. Muscle biopsy shows mild variability in fiber diameter, without degeneration or regeneration (Zou et al., 2014; Hicks et al., 2014). For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2, COL12A1
    Summary: collagen type XII alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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