文章基本信息

标题：Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
作者：M. Sidhu ; L. Brady ; G.D. Vladutiu 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2018
卷号：17
页码：53-55
DOI：10.1016/j.ymgmr.2018.09.009
出版社：Elsevier B.V.
摘要：
Pathogenic variants in the PGAM2 gene are associated with glycogen storage disease type X (GSDX) and is characterized by exercise induced muscle cramping, weakness, myoglobinuria, and often tubular aggregates in skeletal muscle. We report here a patient diagnosed with GSDX at 52 years of age with a normal increase in post-exercise lactate with both anaerobic and aerobic exercise. Genetic testing found two novel PGAM2 variants (c.426C > A, p.Tyr142Ter and c.533delG, p.Gly178Alafs*31).
© 2018 The Authors. Published by Elsevier Inc. No articles found.
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