[Late diagnosis of a McArdle disease's case (type V glycogenosis)]

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S Flavier,M O Rolland,M Eude,C ,J F Brun,I Maire,J Mercier,E Raynaud,S Flavier,M O Rolland,M Eude,C ,J F Brun,I Maire,J Mercier,E Raynaud,

McArdle's disease is a metabolic myopathy characterized by a myophosphorylase deficiency resulting in an inability to degrade glycogen stores. We report the case of a 48 years old patient who complained since adolescence of rest and exercise myalgias and presented a chronic increased plasma creatine kinase activity. First, a maximal exercise test was performed. This test demonstrated a quasi lack of rise of respiratory exchange ratio and of blood lactate, possibly due to a glycogenolytic/glycolytic pathway deficiency. Second, a biopsy of vastus lateralis muscle was performed using Bergström needle. As expected, the analysis of mitochondrial function was normal. The in vitro screening test of the glycogenolysis/glycolysis pathway showed a lack of lactate production in presence of glycogen substrate. The study of muscular metabolism of glycogen revealed a glycogen accumulation and a decrease of active and total phosphorylase activities. These data allowed us to diagnose a type V glycogenosis, or McArdle's disease. The patient appeared heterozygous for the most frequent mutation (p.R50X).

[Late diagnosis of a McArdle disease's case (type V glycogenosis)] Publishing Authors By Initials

S Flavier,MO Rolland,M Eude,C ,JF Brun,I Maire,J Mercier,E Raynaud,S Flavier,MO Rolland,M Eude,C ,JF Brun,I Maire,J Mercier,E Raynaud,

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[Late diagnosis of a McArdle disease's case (type V glycogenosis)] Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Annales de biologie clinique

VOLUME: 65

Page Numbers: 550-4

Journal Abbreviation: Ann. Biol. Clin. (Paris)

ISSN: 0003-3898

DAY: 4

MONTH: 10

YEAR: 2007

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LANGUAGE: fre

NlmUniqueID: 2984690

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AFFILIATION: Service central de physiologie clinique, Unité d'exploration métabolique (CERAMM), Hôpital Lapeyronie, CHU de Montpellier et Inserm, équipe ERI 25 / EA 4202 Muscle et pathologies, Montpellier.

Country: France

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MEDLINETA: Ann Biol Clin (Paris)

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