Novel Heterozygous Mutations in the Gene with Negative Exercise Testing

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2018 Oct 13

PMID 30310767

Citations 2

Authors

M Sidhu

L Brady

G D Vladutiu

M A Tarnopolsky

Affiliations

Soon will be listed here.

Abstract

Pathogenic variants in the 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 variants (c.426C > A, p.Tyr142Ter and c.533delG, p.Gly178Alafs*31).

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