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Manifesting heterozygotes in McArdle disease: A myth or a reality—role of statins

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dc.contributor.author Núñez Manchón, Judit
dc.contributor.author Ballester López, Alfonsina
dc.contributor.author Koehorst, Emma
dc.contributor.author Linares Pardo, Ian
dc.contributor.author Coenen, Daniëlle M.
dc.contributor.author Ara, Ignacio
dc.contributor.author Rodríguez López, Carlos
dc.contributor.author Ramos Fransi, Alba
dc.contributor.author Lucía Mulas, Alejandro
dc.contributor.author Nogales-Gadea, Gisela
dc.contributor.author Et al.
dc.date.accessioned 2018-08-03T10:15:25Z
dc.date.available 2018-08-03T10:15:25Z
dc.date.issued 2018
dc.identifier.citation Núñez-Manchón, J., Ballester-Lopez, A., Koehorst, E., Linares-Pardo, I., Coenen, D., Lucía Mulas, A., ... & Nogales Gadea, G.. (2018). Manifesting heterozygotes in McArdle disease: A myth or a reality-role of statins. Journal of inherited metabolic disease, 41(6), 1027-1035. https://doi.org/10.1007/s10545-018-0203-2 spa
dc.identifier.issn 0141-8955
dc.identifier.uri http://hdl.handle.net/11268/7354
dc.description.abstract McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of “manifesting” heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms or signs despite being carriers of only one mutated PYGM allele) have been reported in the literature but there is controversy, with misdiagnosis being a possibility. The purpose of our study was to determine if there are actually “manifesting” heterozygotes of McArdle disease and, if existing, whether statin treatment can trigger such condition. Eighty-one relatives of McArdle patients (among a total of 16 different families) were studied. We determined whether they were carriers of PYGM mutations and also collected information on exercise tests (second wind and modified Wingate anaerobic test) and statin intake. We found 50 carriers and 31 non-carriers of PYGM mutations. Although we found existence of heterozygotes manifesting some exercise-related muscle problems such as exacerbated myalgia or weakness, they only accounted for 14% of the carriers and muscle symptoms were milder than those commonly reported in patients. Further, no carrier (whether reporting symptoms or not) showed the second wind phenomenon or a flat blood lactate response to maximal-intensity exercise, both of which are hallmarks of McArdle disease. On the other hand, statin myotoxicity was not associated with muscle symptom onset. © 2018 SSIEM spa
dc.description.sponsorship Sin financiación spa
dc.language.iso eng spa
dc.subject.other McArdle disease spa
dc.title Manifesting heterozygotes in McArdle disease: A myth or a reality—role of statins spa
dc.type article spa
dc.description.impact 4.287 JCR (2018) Q1, 36/174 Genetics & Heredity, 33/145 Endocrinology & Metabolism; Q2, 38/136 Medicine, Research & Experimental, spa
dc.description.impact 1.560 SJR (2018) Q1, 83/351 Genetics; Q2, 30/102 Genetics (clinical) spa
dc.description.impact No data IDR 2018 spa
dc.identifier.doi 10.1007/s10545-018-0203-2
dc.rights.accessRights closedAccess spa
dc.subject.uem Genética humana spa
dc.subject.unesco Genética humana spa
dc.subject.unesco Investigación médica spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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