Camptocormia as a feature of Mc Ardle's disease: A case report

Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. We report the case of a patient with typical exercise intolerance with a “second wind” phenomenon, associated with camptocormia which is not commonly recognized as a fea...

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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot
Format:	Article
Language:	English
Published:	Elsevier 2025-03-01
Subjects:	Glycogen storage disease type 5 McArdle's disease Camptocormia
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426925000126