McArdle's disease: two clinical expressions in the same pedigree

A. Papadimitriou, P. Manta, R. Divari, A. Karabetsos, E. Papadimitriou, N. Bresolin

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)267-270
Number of pages4
JournalJournal of Neurology
Volume237
Issue number4
DOIs
Publication statusPublished - Jul 1990

Keywords

  • McArdle's disease
  • Myoglobinuria
  • Phosphorylase deficiency

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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