distal myopathy with rimmed vacuoles

Term ID

DOID:0081363

Synonyms

Definition

A distal myopathy that is 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 and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (5)

References

• MIM:617158
• ORDO:602

Ontology

Human Disease   ( DOID:0081363 )