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...

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Detalles Bibliográficos
Autores principales: Sidhu, M., Brady, L., Vladutiu, G.D., Tarnopolsky, M.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
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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author Sidhu, M.
Brady, L.
Vladutiu, G.D.
Tarnopolsky, M.A.
author_facet Sidhu, M.
Brady, L.
Vladutiu, G.D.
Tarnopolsky, M.A.
author_sort Sidhu, M.
collection PubMed
description 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).
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spelling pubmed-61782392018-10-11 Novel heterozygous mutations in the PGAM2 gene with negative exercise testing Sidhu, M. Brady, L. Vladutiu, G.D. Tarnopolsky, M.A. Mol Genet Metab Rep Case Report 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). Elsevier 2018-10-09 /pmc/articles/PMC6178239/ /pubmed/30310767 http://dx.doi.org/10.1016/j.ymgmr.2018.09.009 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sidhu, M.
Brady, L.
Vladutiu, G.D.
Tarnopolsky, M.A.
Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
title Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
title_full Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
title_fullStr Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
title_full_unstemmed Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
title_short Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
title_sort novel heterozygous mutations in the pgam2 gene with negative exercise testing
topic Case Report
url 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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