Hypotrophic Type I Muscle Fibres with Central Nuclei, and Central Myofibrillar Lysis Preferentially Involving Type II Fibres

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Abstract
Two familial cases of a particular form of congenital myopathy are reported. The peculiar morphological features of the muscle included hypotrophy of type I fibres with central nuclei, and central myofibrillar lysis predominantly affecting type II fibres. Electromyographic findings demonstrated the involvement of tonic motor units. Biochemical investigations suggest an arrest in the maturation of muscle cells, induced by denervative interference of trophic function in early fetal life. The condition has an autosomal recessive pattern of inheritance, with morphologic expressivity in hetero-zygotic carriers. The possible relationship of these cases to others with similar morphological patterns is discussed.

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