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 Citations (Scopus)

Abstract

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
Volume5
Issue number4
DOIs
StatePublished - Jan 1 1995

Fingerprint

Muscle Form Glycogen Phosphorylase
AMP Deaminase
Nonsense Codon
Mutation
Glycogen Storage Disease Type V
Myoglobinuria
Phosphorylases
Muscle Hypotonia
Fathers
Genes
Extremities
Mothers
Exercise
Muscles
DNA

Keywords

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

ASJC Scopus subject areas

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

Cite this

Double trouble : Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. / Tsujino, Seiichi; Shanske, Sara; Carroll, James Edwin; Sabina, Richard L.; Dimauro, Salvatore.

In: Neuromuscular Disorders, Vol. 5, No. 4, 01.01.1995, p. 263-266.

Research output: Contribution to journalArticle

Tsujino, Seiichi ; Shanske, Sara ; Carroll, James Edwin ; Sabina, Richard L. ; Dimauro, Salvatore. / Double trouble : Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. In: Neuromuscular Disorders. 1995 ; Vol. 5, No. 4. pp. 263-266.
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