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Hum Genet. 1995 Nov;96(5):616-8.

Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).

Author information

  • 1Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Germany.

Abstract

Muscle glycogenosis caused by phosphorylase kinase (Phk) deficiency may lead to exercise intolerance, weakness and musculatur atrophy. The gene encoding the muscle isoform of the Phk gamma subunit (gamma M) is one of the candidate genes in which mutations responsible for this condition should be sought. Here, we report the cDNA sequence and the predicted primary structure of the human gamma M subunit.

PMID:
8530014
[PubMed - indexed for MEDLINE]
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