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

作者：Cohen Yishai Haimi^*; Shalva Nechama; Markus Eidlitz Tal; Sadeh Menachem; Dabby Ron; Weintraub Yael; Pode Shakked Ben; Zeharia Avraham; Anikster Yair

来源：Molecular Genetics and Metabolism, 2012, 106(3): 379-381.

DOI：10.1016/j.ymgme.2012.04.012

• McArdle disease
• Myophosphorylase deficiency
• Mutation
• Ethnicity

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.

• 出版日期2012-7