U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from OMIM

Items: 4

1.
McArdle disease: molecular genetic update
AL Andreu, G Nogales-Gadea, D Cassandrini, J Arenas, C Bruno
Acta Myol. 2007 Jul; 26(1): 53–57.
PMCID:
PMC2949323
AbstractArticlePDF–204K
2.
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
S. Tsujino, S. Shanske, I. Nonaka, Y. Eto, J. R. Mendell, G. M. Fenichel, S. DiMauro
Am J Hum Genet. 1994 Jan; 54(1): 44–52.
PMCID:
PMC1918063
SummaryPage BrowsePDF–1.6M
3.
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
S Iyengar, H Kalinsky, S Weiss, M Korostishevsky, M Sadeh, Y Zhao, K K Kidd, B Bonne-Tamir
J Med Genet. 1997 May; 34(5): 391–394. doi: 10.1136/jmg.34.5.391
PMCID:
PMC1050946
SummaryPage BrowsePDF–1.0M
4.
Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.
S Gautron, D Daegelen, F Mennecier, D Dubocq, A Kahn, J C Dreyfus
J Clin Invest. 1987 Jan; 79(1): 275–281. doi: 10.1172/JCI112794
PMCID:
PMC424040
SummaryPage BrowsePDF–1.6M

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

You are here: NCBI > Literature > PubMed Central (PMC)
Support Center