title: Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
abstract: 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 another, more common, mutation at codon 49. The kindred in our study is the first family reported in which disease is caused by homozygosity for this rare mutation. This kindred was originally reported as the first familial case of McArdle disease in the Druze.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
authors.forename: S
authors.initials: S
authors.lastname: Iyengar
authors.forename: H
authors.initials: H
authors.lastname: Kalinsky
authors.forename: S
authors.initials: S
authors.lastname: Weiss
authors.forename: M
authors.initials: M
authors.lastname: Korostishevsky
authors.forename: M
authors.initials: M
authors.lastname: Sadeh
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
authors.forename: B
authors.initials: B
authors.lastname: Bonne-Tamir
mesh_terms: D002461:Cell Line, Transformed; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005796:Genes / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D007514:Islam; D008297:Male; D010375:Pedigree; D010641:Phenotype; D006005:Phosphorylases / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D005819:Genetic Markers; D006005:Phosphorylases