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GTR Home > Conditions/Phenotypes > Myopathy, distal, with rimmed vacuoles

Myopathy, distal, with rimmed vacuoles

Synonyms
MULTISYSTEM PROTEINOPATHY 4

Summary

Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by Bucelli et al., 2015). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A170, DMRV, EBIAP, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B, SQSTM1
    Summary: sequestosome 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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