Abstract
ZASP (a Z-band alternatively spliced PDZ-containing protein) is a sarcomeric protein predominantly expressed in cardiac and skeletal muscle. ZASP mutations were reported in patients with dilated cardiomyopathy, myofibrillar myopathy (MFM) and late onset distal myopathy. To identify ZASP mutations among patients diagnosed as MFM. Fifty-two unrelated patients were selected having the diagnosis of MFM and distal myopathy with rimmed vacuoles with no mutation in GNE. All exons and flanking untranslated regions of ZASP were directly sequenced in these patients.
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