ArticleCureus2024
Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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2 authors.
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Abstract
Evaluation of a single episode of exercise-induced myalgia, dark urine, and elevated creatine phosphokinase (CPK) levels relies primarily on clinical history and physical examinations. However, recurrent episodes necessitate further investigations for potential genetic conditions. This is a case of an 11-year-old male who presents with recurrent myalgia, dark discolored urine, and exercise intolerance for the past year. The initial examination revealed hematuria and a mild elevation of transaminases. Referral to nephrology showed elevated CPK level, prompting further evaluation by neurology. A DNA sequencing-based neuromuscular genetic panel identified a heterozygous pathogenic variant and two variants of uncertain significance in his
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