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Other literature type . 2024
License: CC BY
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Conference object . 2024
License: CC BY
Data sources: Datacite
ZENODO
Conference object . 2024
License: CC BY
Data sources: Datacite
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The Case of a Not So Wimpy Patient

Authors: Felice, Kevin; Whitaker, Elizabeth;

The Case of a Not So Wimpy Patient

Abstract

McArdle disease, also known as glycogen storage disease V (GSD V), is a pure myopathy of glycogen utilization caused by inherited mutations in both alleles ofthe PYGM gene, which encodes myophosphorylase. This disorder usually presents in younger patients with symptoms of exercise intolerance, exercise-associated myalgias and cramping, or recurrent myoglobinuria (1). Here we describe the case of a 39-year-old woman with McArdle disease who had a lifelong history of exercise intolerance and fatigability that she thought was just her being “wimpy” at the start of exertion and her pain was normal. This patient presented to our clinic for answers following repeated episodes of myoglobinuria. In this case study, we report on the pathophysiology of McArdle disease, the diagnostic workup, and management options available for patients.

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Keywords

Basic medicine, Cell metabolism, Myophosphorylase, Neurology, Neuromuscular, Clinical neurology, Clinical medicine, FOS: Clinical medicine, McArdle, FOS: Basic medicine, Biochemistry

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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Green