McArdle's disease: two clinical expressions in the same pedigree |
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Authors: | A. Papadimitriou P. Manta R. Divari A. Karabetsos E. Papadimitriou N. Bresolin |
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Affiliation: | (1) Department of Neurology, Red Cross Hospital, 45 Boussiou Str, 115 26 Athens, Greece;(2) Department of Neurology, University of Athens, Athens, Greece;(3) Institute of Clinical Neurology, Centro Dino Ferrari, University of Milan, Milan, Italy |
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Abstract: | Summary Two patients with McArdle's disease within the same pedigree and with two different clinical forms are presented. The first patient suffered from progressive muscle weakness and atrophy. Muscle morphology was that of myopathy. Residual activity of phosphorylase was 28% and sodium dodecyl sulphate electrophoresis showed decreased protein. The second case was typical of McArdle's disease, clinically and biochemically. It was concluded that the first patient was a heterozygote (residual activity 28% of normal) and the second was a homozygote, the genetic transmission being autosomal recessive. |
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Keywords: | McArdle's disease Myoglobinuria Phosphorylase deficiency |
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