The spectrum of cytoplasmic body myopathy: Report of a congenital severe case

A 6-year-old girl presented with a myopathy--she was floppy since birth and developed progressive respiratory failure for which she required mechanical ventilation at age 6 months. Biopsy showed cytoplasmic bodies in about 15% of both type 1 and 2 muscle fibers. Of the 18 cases of cytoplasmic body myopathy (CBM) reported in the literature, 3 had symptoms at birth and in all of them the course was benign. Four clinical patterns emerged; a)...