Article
McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Molecular genetics and metabolism - 1 Jul 2012
Haimi Cohen Yishai, Shalva Nechama, Markus-Eidlitz Tal, Sadeh Menachem, Dabby Ron, Weintraub Yael, Pode-Shakked Ben, Zeharia Avraham, Anikster Yair
Abstract excerpt
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...
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