Previouslywe havereported a patient, who was 17 year old male and had clinical and histological characteristics of nemaline myopathy. In this report, several clinical and histological findings of the case were represented in detail.
The rod like structures which were found in the biopsied rectus femoris muscle of this patient were observed in almost all of the small and many of the medium sized fibers but rare in the large fibers. Byhistochemical examination, these rod riched fibers were revealed as type I fibers.
Hitherto we have examined the biopsied muscles from about three hundred patients with various neuromuscular disorders. Out of these materials, rod like structures were found light-microsco-pically in seven cases and electronmicroscopically six cases, which consisted of various disorders such as dermatomyositis, progressive muscular dystrophy (FSH and LG types), myotonic dystrophy, toxicodermia, angitis, myasthenia gravis, diabetic neuropathy and congenital myopathies.
Although rod like strucures may be found nonspecifically, congenital myopathy with both clinical and histological characteristics was as yet very rare.
Therf ore, concerning to nemaline myopathy, the existence of its clinical entity as a particular congenital mvopathic disease seemso be not yet undeniable.
