Nemaline myopathy

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Abstract
A sporadic case of congenital myopathy in a 16-year-old Jewish woman is reported. The patient, whose physical appearance suggested a diagnosis of Marfan''s syndrome, also had at least one congenital cardiac anomaly (ventricular septal defect) but was only moderately incapacited suggesting that the progress of her muscular disorder was very slow. The diagnosis of nemaline myopathy was made by phase-contrast microscopy of routine histological sections from 2 muscle biopsies. Subsequent electron microscopic examination of material from the same biopsies demonstrated the changes typically associated with this condition and, in particular, confirmed the intimate relationship between the smaller rod bodies and the Z disks.