Comprehensive genome analysis of Japanese patients with myofibrillar myopathy

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Myofibrillar myopathy (MFM) is genetically and phenotypically heterogeneous group of skeletal and cardiac muscle disorders, which is pathologically characterized by focal disorganization of myofibrils and presence of aggregates of myofibrillar protein. However, the molecular pathomechanism is largely unknown. We performed comprehensive genome analysis to elucidate the pathogenesis of MFM. Among 16888 cases whose pathological diagnosis was made in National Center of Neurology and Psychiatry on 1976 through 2016, a total of 250 patients were categorized as MFM.

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