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GTR Home > Conditions/Phenotypes > Bethlem myopathy 1C

Bethlem myopathy 1C

Summary

Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Weakness usually begins in mid-childhood or adolescence, but progression is slow and ambulation is retained into adulthood (summary by Butterfield et al., 2013). For general phenotypic information and a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1A (158810). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C, COL6A3
    Summary: collagen type VI alpha 3 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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