Kohn, Tertius AbrahamNoakes, Timothy D.Rae, Dale E.Rubio, Juan CarlosSantalla Hernández, AlfredoNogales-Gadea, GiselaPinós, TomásMartín, Miguel ÁngelArenas, JoaquínLucía Mulas, Alejandro2015-06-162015-06-162014Kohn, T. A., Noakes, T. D., Rae, D. E., Rubio, J. C., Santalla-Hernández, A., Nogales-Gadea, G., ..., & Lucía-Mulas, A. (2014). McArdle disease does not affect skeletal muscle fibre type profiles in humans. Biology Open, 3(12), 1224-1227.20466390http://hdl.handle.net/11268/4002Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre recruitment. To explain this phenomenon, this study investigated whether muscle fibre type is shifted towards a predominance in type I fibres as a consequence of the disease. Muscle biopsies from the Biceps brachii (BB) (n = 9) or Vastus lateralis (VL) (n = 8) were collected over a 13-year period from male and female patients diagnosed with McArdle disease, analysed for myosin heavy chain (MHC) isoform content using SDS-PAGE, and compared to healthy controls (BB: n = 3; VL: n = 10). All three isoforms were expressed and no difference in isoform expression in VL was found between the McArdle patients and healthy controls (MHC I: 33±19% vs. 43±7%; MHC IIa: 52±9% vs. 40±7%; MHC IIx: 15±18% vs. 17±9%).engReconocimiento 3.0 Unportedhttps://creativecommons.org/licenses/by/3.0/deed.es_ESMyosin heavy chainGlycogen storage disease VPhosphorylase deficiencyjournal article10.1242/bio.20149548open accessEnfermedades - McArdleEjercicio físicoGenéticaCienciaSaludGenética humana