Distal myopathy with rimmed vacuoles

Definition:

Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant distal myopathy. It has been reported that mutations in SQSTM1 cause this disease. SQSTM1 is an autophagic adaptor that shuttles aggregated and ubiquitinated proteins to the autophagosome.

References:

[1]. Robert C Bucelli, et al. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology. 2015 Aug 25;85(8):665-74. [Content Brief]

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