'An artefact gone awry': identification of the first case of nemaline myopathy by Dr R.D.K. Reye.

In 1963, Shy et al. (Brain 1963;86:793-810) and Conen et al. (Can Med Assoc J 1963;89:983-986) published the first description of a novel myopathy characterized by the aggregation of rods (nemaline bodies) in the muscle fibres. This disorder was subsequently known as nemaline myopathy. Dr Douglas Reye, an Australian pathologist, described a patient with 'rod myopathy' five years earlier, in 1958. Here we present Dr Reye's original description of nemaline myopathy, and details of the 'second opinion' which concluded that the rod were a 'processing artifact', so that the case was never published. Detailed histological and immunocytochemical studies of this original case demonstrate the typical features of nemaline myopathy, and a mutation in skeletal muscle alpha-actin has recently been identified in this patient. Not only was Dr Reye the first to use the term 'rod' in relation to muscle disease, he also made observations that are relevant to the pathogenesis of nemaline myopathy.