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GTR Home > Conditions/Phenotypes > Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Synonyms
Emery-Dreifuss muscular dystrophy 7, AD

Summary

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300. [from OMIM]

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARVC5, ARVD5, AUNA3, EDMD7, EDMD7; AUNA2, LUMA, TMEM43
    Summary: transmembrane protein 43

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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