title: Exercise induced fatigue: unfit or unwell?
abstract: This case report outlines the diagnoses of a rare myophosphorylase deficiency (McArdle Syndrome) in a unique way. A set of characteristic values from a Cardiopulmonary Exercise Test (CPET) combined with a typical patient history pointed to a failure of the glycolytic pathway in the skeletal muscle. McArdle Syndrome was confirmed with a skeletal muscle biopsy. There is no evidence of such a diagnostic method in the literature.
authors: AMNCH, Tallaght, Dublin 24. mooredm82@googlemail.com
authors: D M
authors: DM
authors: Moore
authors: P
authors: P
authors: Nadarajan
authors: R
authors: R
authors: Hawksworth
authors: S J
authors: SJ
authors: Lane
authors: I M
authors: IM
authors: Graham
mesh_terms: D005080:Exercise Test; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis*; D006801:Humans; D008297:Male; D018763:Muscle Fatigue / Q000502:physiology*; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D055815:Young Adult