Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

M. Sidhu; L. Brady; G. D. Vladutiu; M. A. Tarnopolsky

doi:10.1016/j.ymgmr.2018.09.009

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

M. Sidhu
, L. Brady
, G. D. Vladutiu
, M. A. Tarnopolsky

Pediatrics

McMaster University

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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).

Original language	English
Pages (from-to)	53-55
Number of pages	3
Journal	Molecular Genetics and Metabolism Reports
Volume	17
DOIs	https://doi.org/10.1016/j.ymgmr.2018.09.009
State	Published - Dec 2018

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10.1016/j.ymgmr.2018.09.009

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title = "Novel heterozygous mutations in the PGAM2 gene with negative exercise testing",

abstract = "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).",

author = "M. Sidhu and L. Brady and Vladutiu, \{G. D.\} and Tarnopolsky, \{M. A.\}",

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year = "2018",

month = dec,

doi = "10.1016/j.ymgmr.2018.09.009",

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journal = "Molecular Genetics and Metabolism Reports",

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T1 - Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

AU - Sidhu, M.

AU - Brady, L.

AU - Vladutiu, G. D.

AU - Tarnopolsky, M. A.

PY - 2018/12

Y1 - 2018/12

N2 - 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).

AB - 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).

UR - https://www.scopus.com/pages/publications/85054425418

U2 - 10.1016/j.ymgmr.2018.09.009

DO - 10.1016/j.ymgmr.2018.09.009

M3 - Article

AN - SCOPUS:85054425418

SN - 2214-4269

VL - 17

SP - 53

EP - 55

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

ER -

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

Abstract

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