Clinical and pathological features of myofibrillar myopathy(report of 1 case)

Objective To study the clinical and pathological features of myofibrillar myopathy.Methods Clinical and pathological data of a patient with myofibrillar myopathy were anlysised retrospectively.Results The patient showed middle-aged onset,progressively proximal muscle weakness,mildly general muscle atrophy.Neurogenic changers were found in lower extremities on EMG.On mucle biopsy,cytoplasmic bodies presented in many muscle fibers in which disorganized myofibrillar networks and abnormal desmin aggregates were found,and rimmed vacuoles appeared in muscle fibers.Conclusions There is no specificity of clinical manifestation in myofibrillar myopathy.Cytoplasmic bodies,disorganized myofibrillar networks and abnormal desmin aggregates are the distinctively pathological features in myofibrillar myopathy.