Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance

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Abstract
We report a family in which four members in two generations (mother, her son, and two daughters) suffered from impaired muscle relaxation aggravated by exercise. Muscle biopsies from two sisters showed moderate degree of histochemical type 2 fiber atrophy and excess of internal nuclei. Microscopic immunocytochemistry, using a monoclonal antibody raised against purified chicken SR-ATPase, revealed severe reduction of the immunoreactive SR-ATPase protein limited to histochemical type 2 fibers. Immunoreactive Ca2+-ATPase of SR was markedly decreased on Western blots of muscle proteins. This family appears to have a clinically, electromyographically, and biochemically distinct metabolic myopathy associated with deficiency of SR-ATPase, with a probable autosomal dominant inheritance pattern that is phenotypically similar to recently described recessive cases.