Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the α subunit

Michael Wehner, Paula R. Clemens, Andrew G Engel, Manfred W. Kilimann

Research output: Contribution to journalArticle

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Abstract

Heritable phosphorylase kinase (Phk) deficiency is responsible for several forms of glycogen storage disease in humans and animals that differ in mode of inheritance and tissue-specificity. Mutations affecting different subunits and isoforms of Phk are expected to contribute to this heterogeneity. In the present study, we have investigated a case of muscle-specific, adult-onset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle isoform of the α subunit (α(M)), a muscle-specifically expressed exon of the β subunit, and the muscle isoform of the γ subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in α(M). The condition of this patient therefore is a human homolog of the X-linked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation.

Original languageEnglish (US)
Pages (from-to)1983-1987
Number of pages5
JournalHuman Molecular Genetics
Volume3
Issue number11
StatePublished - Nov 1994

Fingerprint

Glycogen Storage Disease
Nonsense Codon
Muscle
Protein Isoforms
Mutation
Muscles
Phosphorylase Kinase
Organ Specificity
Exons
Sequencing
Specificity
Mouse
Animals
Polymerase Chain Reaction
Coding
Genes
Glycogen Storage Disease Type Ix
Human
Tissue
Gene

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the α subunit. / Wehner, Michael; Clemens, Paula R.; Engel, Andrew G; Kilimann, Manfred W.

In: Human Molecular Genetics, Vol. 3, No. 11, 11.1994, p. 1983-1987.

Research output: Contribution to journalArticle

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