HUMAN CDNA-ENCODING THE MUSCLE ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG1)

Authors
WEHNER M KILIMANN MW
Citation
M. Wehner et Mw. Kilimann, HUMAN CDNA-ENCODING THE MUSCLE ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG1), Human genetics, 96(5), 1995, pp. 616-618
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
96
Issue
5
Year of publication
1995
Pages
616 - 618
Database
ISI
SICI code
0340-6717(1995)96:5<616:HCTMIO>2.0.ZU;2-7
Abstract
Muscle glycogenosis caused by phosphorylase kinase (Phk) deficiency ma y lead to exercise intolerance, weakness and musculatur atrophy. The g ene encoding the muscle isoform of the Phk gamma subunit (gamma(M)) is one of the candidate genes in which mutations responsible for this co ndition should be sought. Here, we report the cDNA sequence and the pr edicted primary structure of the human gamma(M) subunit.