Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

Nemaline (rod) myopathy, first described in 1963 by Shy et al' and Conen et al,' is assigned to the group of congenital myopathies. These muscle disorders are defined on the basis of structural abnormalities of the muscle fibres, visible after staining of muscle biopsy sections with histochemical methods. The histological definition of nemaline myopathy is based on the presence of thread-or rod-like bodies, the nemaline (rod) bodies in the muscle fibres of patients.