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 journalArticle

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

Fingerprint

Glycogen Storage Disease Type V
Muscle Form Glycogen Phosphorylase
Heterozygote
Alleles
Mothers
Pedigree
Reference Values
Gene Expression

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

Cite this

Manifesting heterozygotes in McArdle's disease : clinical, morphological and biochemical studies in a family. / Manfredi, Giovanni; Silvestri, Gabriella; Servidei, Serenella; Ricci, Enzo; Mirabella, Massimiliano; Bertini, Enrico; Papacci, Manuela; Rana, Michele; Tonali, Pietro.

In: Journal of the Neurological Sciences, Vol. 115, No. 1, 1993, p. 91-94.

Research output: Contribution to journalArticle

Manfredi, G, Silvestri, G, Servidei, S, Ricci, E, Mirabella, M, Bertini, E, Papacci, M, Rana, M & Tonali, P 1993, 'Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family', Journal of the Neurological Sciences, vol. 115, no. 1, pp. 91-94. https://doi.org/10.1016/0022-510X(93)90071-6
Manfredi, Giovanni ; Silvestri, Gabriella ; Servidei, Serenella ; Ricci, Enzo ; Mirabella, Massimiliano ; Bertini, Enrico ; Papacci, Manuela ; Rana, Michele ; Tonali, Pietro. / Manifesting heterozygotes in McArdle's disease : clinical, morphological and biochemical studies in a family. In: Journal of the Neurological Sciences. 1993 ; Vol. 115, No. 1. pp. 91-94.
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