title: McArdle disease: a novel mutation in Jewish families from the Caucasus region.
abstract: McArdle disease is caused by a myophosphorylase deficiency consequent to defects in the PYGM gene. A minority of the over-133 known mutations are associated with ethnicity, occurring mainly in patients from western Europe, the United States, and Japan. We identified a novel mutation, c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region. This possibly ethnicity-associated mutation can significantly facilitate the diagnosis in Jews of the Caucasus and contribute to genetic consultations.
authors.affiliation: Day Hospitalization Unit, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel. yhaimi@bezeqint.net
authors.forename: Yishai
authors.initials: Y
authors.lastname: Haimi Cohen
authors.forename: Nechama
authors.initials: N
authors.lastname: Shalva
authors.forename: Tal
authors.initials: T
authors.lastname: Markus-Eidlitz
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.forename: Ron
authors.initials: R
authors.lastname: Dabby
authors.forename: Yael
authors.initials: Y
authors.lastname: Weintraub
authors.forename: Ben
authors.initials: B
authors.lastname: Pode-Shakked
authors.forename: Avraham
authors.initials: A
authors.lastname: Zeharia
authors.forename: Yair
authors.initials: Y
authors.lastname: Anikster
mesh_terms: D000328:Adult; D001382:Azerbaijan / Q000208:ethnology; D001483:Base Sequence; D003610:Dagestan / Q000208:ethnology; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D055815:Young Adult
chemical_list: D024982:Glycogen Phosphorylase, Muscle Form