McArdle disease: A novel mutation in Jewish families from the Caucasus region

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• 作者：Yishai Haimi Cohen^a ; ^d ; ¹ ; ^{yhaimi@bezeqint.net} ; Nechama Shalva^b ; ^d ; ¹ ; ^{Nechama.Shalva@sheba.health.gov.il} ; Tal Markus-Eidlitz^a ; ^d ; ^{Talod@clalit.org.il} ; Menachem Sadeh^c ; ^d ; ^{mesadeh@post.tau.ac.il} ; Ron Dabby^c ; ^d ; ^{ronda@post.tau.ac.il} ; Yael Weintraub^b ; ^d ; ^{yaeliwein@gmail.com} ; Ben Pode-Shakked^b ; ^d ; ^{ben_pode@hotmail.com} ; Avraham Zeharia^a ; ^d ; ^{zavraham@clalit.org.il} ; Yair Anikster^b ; ^d ; ^{Yair.anikster@sheba.health.gov.il}
• 关键词：McArdle disease ; Myophosphorylase deficiency ; Mutation ; Ethnicity
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 期刊代码：175_10967192
• 类别：bio
• 出版时间：July, 2012
• 卷：106
• 期：3
• 页码：379-381
• 文件大小：337 K

摘要

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.