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Mol Genet Metab. 2012 Jul;106(3):379-81. doi: 10.1016/j.ymgme.2012.04.012. Epub 2012 Apr 23.

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

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  • 1Day Hospitalization Unit, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel.


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.

Copyright © 2012 Elsevier Inc. All rights reserved.

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