Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833835 | Molecular Genetics and Metabolism | 2011 | 5 Pages |
Abstract
⺠We report six novel mutations in the PYGM gene in six patients with McArdle disease.⺠In silico and conservation analyses were used to support mutation pathogenicity. ⺠We describe a family with pseudo-dominant transmission of McArdle disease. ⺠Increasing the database of pathogenic mutations helps confirm genetic tests. ⺠Recognizing the possibility of pseudo-dominance expedites appropriate genetic testing.
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Authors
Y. Wu, J.L. Weber, G.D. Vladutiu, M.A. Tarnopolsky,