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Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
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...
Autores principales: | Sidhu, M., Brady, L., Vladutiu, G.D., Tarnopolsky, M.A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178239/ https://www.ncbi.nlm.nih.gov/pubmed/30310767 http://dx.doi.org/10.1016/j.ymgmr.2018.09.009 |
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