Article
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 - 1 May 1997
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd K K, Bonne-Tamir B
Abstract excerpt
We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene. All affected subjects were autozygous for a single G to A transition that abolishes the 5' consensus splice site in the first nucleotide of intron 14. The G to A transition is a rare mutation, with only one previous report in a single white subject heterozygous for this mutation and...
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