A Late Autosomal Dominant Form of Limb-Girdle Muscular Dystrophy

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Abstract
A case report of a 56-year-old man with a late-onset limb-girdle muscular dystrophy is presented. The disease was caused by an autosomal dominant gene with expression limited to males. A muscle biopsy was performed in a clinically less affected limb-girdle muscle. Light microscopic and histochemical examination showed only minor changes with the exception of important variation in the diameter of the type II muscle fibers. With the electron microscope a large variety of alterations, as well as extensive damage to type II fibers, were seen. The genetic and morphological findings are discussed in relation to the classification and etiology of the limb-girdle muscular dystrophy.

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