Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

Giovanni Manfredi, Gabriella Silvestri, Serenella Servidei, Enzo Ricci, Massimiliano Mirabella, Enrico Bertini, Manuela Papacci, Michele Rana, Pietro Tonali

Research output: Contribution to journalArticlepeer-review

Abstract

We report a family with McArdle's disease with several affected individuals in two generations. This unusual pedigree for an autosomal recessive disease is explained by the existence of manifesting heterozygotes in the maternal line. The presence of symptoms in heterozygotes seems to be due to a decrease in myophosphorylase activity below a critical threshold, ranging between 30% and 45% of normal mean value. The occurrence of several manifesting heterozygotes in the maternal line only can be explained by compound heterozygosity of a defective allele and a pseudodeficient allele for myophosphorylase, or by a genetic factor which regulates the phenotypic expression of the gene.

Original languageEnglish
Pages (from-to)91-94
Number of pages4
JournalJournal of the Neurological Sciences
Volume115
Issue number1
DOIs
Publication statusPublished - 1993

Keywords

  • Glycogenosis type 5
  • Manifesting heterozygote
  • McArdle's disease
  • Muscle phosphorylase
  • Residual activity

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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