Catalog

Z-band alternatively spliced PDZ motif containing-protein myopathy

No MMS code

Link to WHO Definition

Z-band alternatively spliced PDZ motif containing-protein myopathy – http://id.who.int/icd/entity/1287541405

Z-band alternatively spliced PDZ motif containing-protein (ZASP) myopathy is an autosomal dominant myofibrillar myopathy caused by mutations in ZASP. Clinical spectrum of zaspopathy includes cardiomyopathy, distal more than proximal weakness, and peripheral neuropathy.