Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

Seiichi Tsujino, Sara Shanske, James Edwin Carroll, Richard L. Sabina, Salvatore Dimauro

Research output: Contribution to journalArticle

40 Scopus citations


A 2-yr-old boy had congenital hypotonia, limb weakness, exercise intolerance and one episode of myoglobinuria. Histochemical and biochemical analysis of muscle showed a combined defect of phosphorylase and AMP deaminase. DNA analysis showed that the child was homozygous for the mutations commonly found in both McArdle's disease and AMP deaminase deficiency. The father was heterozygous for both mutations. The mother was heterozygous for the myophosphorylase gene mutation and homozygous for the mutation in the AMP deaminase 1 gene.

Original languageEnglish (US)
Pages (from-to)263-266
Number of pages4
JournalNeuromuscular Disorders
Issue number4
StatePublished - Jan 1 1995



  • AMP deaminase deficiency
  • Myophosphorylase deficiency
  • myoglobinuria
  • nonsense mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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