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DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.

The authors studied the composition of isoenzymes of malic dehydrogenase in peripheral blood leucocytes of patients with Duchenne-type progressive muscular dystrophy, their mothers and sisters, and also in other primary muscular diseases. The studied group included 25 patients with Duchenne dystrophy, 20 their mothers and sisters, and 11 patients with other primary muscular diseases. The control group comprised 10 healthy subjects aged 19-40 years. Sporadically a decrease was observed of total activity and of the amount of the mitochondrial isoenzyme of MDH in Duchenne dystrophy. In one case the m-MDH isoenzyme was completely absent, this patient had most advanced disease. In the mothers of patients decreased MDH activity occurred rarely (once in 13 mothers) and the pattern of MDH isoenzymes was normal, similarly as in sisters of these patients. In other primary muscular diseases no abnormalities were found.

Determinations of AMP-aminohydrolase activity were done in muscles in 34 cases of different neuromuscular diseases, and 30 subjects without skeletal muscle changes. In the group of patients Duchenne's progressive dystrophy accounted for 10 cases, the remaining patients had limb-girdle dystrophy, polymyositis, myotonia, collagen diseases, myopathies of nuclear aetiology, and neurogenic muscle disease. The highest fall in the activity of the enzyme was observed in Duchenne's dystrophy. The authors discuss the possible mechanism of development of these abnormalities.

In the presented paper we failed to confirm the suggestion of a high diagnostic value of determination of blood lactic dehydrogenase isoenzymes in cases of Duchenne's dystrophy and in the detection of carriers of its gene. Determination of creatine kinase activity remains still the best biochemical test in this disease.

In 10 patients with polymyositis at different stages of the intensity of clinical changes the effect of serum dialysis on CPK activity was studied. The controlgroup comprised 5 patients with Duchenne type myopathy and 11 healthy subjects. In 80% of patients with polymyositis a fall in CPK activity was observed after dialysis, similarly as in all patients with Duchenne type dystrophy and in healthy subjects. In the ramaining patients with polymyositis a significant rise in CPK activity occurred after dialysis. These patients were in the acute stage of the disease and had not yet been treated.