Abstract
Myofibrillar myaopathy (MFM) is a group of genetically heterogeneous disorders characterized by protein aggregates in muscle fibers associated with markedly disorganized myofibrils. To date, 7 causative genes were identified including DES, CRYAB, ZASP, MYOT, FLNC, BAG3, and FHL1. To know the character of Japanese patients with MFM. We performed mutation screening in 114 Japanese patients with MFM. Clinical and pathological findings were analyzed. In our series, number of patients with mutations in DES, ZASP, MYOT, FLNC, BAG3, and FHL1 were 6, 6, 4, 6, 2, and 6, respectively.
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