Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.

Abstract

Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both father and daughter were affected, an example of pseudo-dominant transmission. The daughter was a compound heterozygote for a new nonsense mutation (R207X) and a new missense mutation (R602Q) while her father was homozygous for the R207X mutation. The mother carried only the R602Q mutation and was an asymptomatic heterozygote. In the second family, the only affected member was homozygous for the R207X mutation. This first molecular genetic study of McArdle's disease in Yemenite-Jewish patients expands the already remarkable genetic heterogeneity of McArdle's disease and suggests the existence of ethnic or private mutations within this group.

• Authors: Georgios M Hadjigeorgiou, Menachem Sadeh, Olimpia Musumeci, Ron Dabby, Laura De Girolami, Ali Naini, Alexandros Papadimitriou, Sara Shanske, Salvatore DiMauro
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 12 Issue 9 Pg. 824-7 (Nov 2002) ISSN: 0960-8966 [Print] England
• PMID: 12398832 (Publication Type: Case Reports, Clinical Trial, Comparative Study, Journal Article)

Chemical References

• Codon, Nonsense
• Glycogen Phosphorylase, Muscle Form

Topics

• Adult
• Codon, Nonsense
• Genetic Predisposition to Disease
• Glycogen Phosphorylase, Muscle Form (deficiency, genetics)
• Glycogen Storage Disease Type V (enzymology, genetics)
• Heterozygote
• Homozygote
• Humans
• Jews (genetics)
• Middle Aged
• Molecular Biology
• Pedigree
• Point Mutation
• Polymerase Chain Reaction (methods)
• Polymorphism, Restriction Fragment Length
• Yemen