Reports: 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. Killmann

Research output: Contribution to journalArticle

53 Scopus citations

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, adultonset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle Isoform of the α subunit (αM), a muscle-specifically expressed exon of the β subunit, and the muscle Isoform of the y subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in αM. The condition of this patient therefore is a human homolog of the Xlinked 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
DOIs
StatePublished - Nov 1 1994

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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