ON A DOMINANTLY INHERITED MYOPATHY WITH TUBULAR AGGREGATES

A 19-year-old patient presented with exercise-related myalgia, fatigue and elevated creatine kinase levels. Histology of a muscle biopsy was characterized by the presence of very large amounts of tubular aggreg ates. Both his father and paternal grandfather had elevated creatine k inase and large amounts of tubular aggregates in their muscle biopsies . The aggregates consisted of closely packed vesicles and tubules fill ed with electron-dense material or with one to several smaller tubules . Disorders with tubular aggregates in the muscle fibres such as hyper ornithinaemia with gyrate atrophy of the retina, hypokalaemic periodic paralysis, hyperkalaemic periodic paralysis, myolonia congenita, alco holism, osteomalacic myopathy etc. have been excluded. Tubular aggrega tes can be found in muscle disorders characterized by exercise-induced cramps, pain and stiffness. They also represent the predominant histo logical feature of some familial myopathies due to a yet unidentified genetic defect. In our family, there was male-to-male transmission, co nfirming dominant inheritance. (C) 1997 Elsevier Science B.V.