ISSN:
1432-1459
Keywords:
McArdle's disease
;
Myoglobinuria
;
Phosphorylase deficiency
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00314633
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