Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd K, Bonne-Tamir B. Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. Journal Of Medical Genetics 1997, 34: 391. PMID: 9152836, PMCID: PMC1050946, DOI: 10.1136/jmg.34.5.391.Peer-Reviewed Original Research