CONGENITAL MYOPATHIES (CNM)

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A limited number of genetically proven cases of BIN1-CNM have been described. DNM2-CNM is more frequent and the main biopsy characteristics is fibers with radiating sarcomeric strands along with nuclear centralization. To present a Brazilian case of DNM2 mutation and muscle biopsy with main features compatible with BIN1-CNM histopathology. Case report. A 58-year-old woman was born as a “weak child” with the “eyes closed”. She had reduced spontaneous movements, delayed motor milestones and a motor limitation in follow other children in motor activities.

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