Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

doi:10.1007/s10545-018-0203-2

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Article

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Journal of inherited metabolic disease - 1 Nov 2018

Núñez-Manchón Judit, Ballester-Lopez Alfonsina, Koehorst Emma, Linares-Pardo Ian, Coenen Daniëlle, Ara Ignacio, Rodriguez-Lopez Carlos, Ramos-Fransi Alba, Martínez-Piñeiro Alicia, Lucente Giuseppe, Almendrote Miriam, Coll-Cantí Jaume, Pintos-Morell Guillem, Santos-Lozano Alejandro, Arenas Joaquin, Martín Miguel Angel, de Castro Mauricio, Lucia Alejandro, Santalla Alfredo, Nogales-Gadea Gisela

Abstract excerpt

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...

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PMID: 29926259
DOI: 10.1007/s10545-018-0203-2

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