Type distribution of muscle fibres and their ultrastructure related to intracellular elemental composition as revealed by energy dispersive X-ray microanalysis: A study of multicore myopathy

Abstract

Four cases of congenital myopathy, two children and two adults, are described whose light-microscopical and ultrastructural findings are consistent with a multicore myopathy. In all cases a hereditary etiology to the disorders is obvious presumably by an autosomal recessive trait. Fibres with central nuclei and multiple minicores was a prominent finding in all cases. Energy dispersive X-ray microanalysis of single muscle fibres revealed a normal intracellular content of elements (sodium, potassium and chlorine). This is in contrast to the findings in some cases of s.c. myotubular myopathy earlier described from our group where content of sodium and chlorine is markedly increased while that of potassium is decreased. It is suggested that in myotubular myopathy membrane dysfunction causing decreased ionic gradients is an important feature of the pathophysiology while in multicore myopathy other mechanisms, as a suggestion related to mitochondrial and myofibrillar function play a more prominent part. From a diagnostic point of view it seems that X-ray microanalysis can be used to differentiate the two conditions.