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.
Original language | English |
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Pages (from-to) | 379-381 |
Number of pages | 3 |
Journal | Molecular Genetics and Metabolism |
Volume | 106 |
Issue number | 3 |
DOIs | |
State | Published - Jul 2012 |
Keywords
- Ethnicity
- McArdle disease
- Mutation
- Myophosphorylase deficiency