New evidence for excessive accumulation of Z-band material in nemaline myopathy.

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Abstract
An electron microscopic study of muscle biopsies from 2 children (two of whom are sisters) with clinical and histologic features of "nemaline myopathy," was reported. The pathologic fibrillar material characteristic of this disease may be similar to and continuous with the substance which makes up the Z-bands. Nemaline myopathy is probably a disorder characterized by the excessive production and accumulation of Z-band material. At least a portion of this "stored" Z-line substance may be tropomyosin-B. Normal or nearly normal conventional histopathologic preparations from patients with a congenital relatively nonprogressive muscular weakness do not rule out nemaline myopathy.