Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease

Sudha Iyengar*, Hagar Kalinsky, Sari Weiss, Misha Korostishevsky, Menachem Sadeh, Ying Zhao, Kenneth K. Kidd, Batsheva Bonne-Tamir

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology