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Research Article
McArdle disease does not affect skeletal muscle fibre type profiles in humans
Tertius Abraham Kohn, Timothy David Noakes, Dale Elizabeth Rae, Juan Carlos Rubio, Alfredo Santalla, Gisela Nogales-Gadea, Tomas Pinós, Miguel A. Martín, Joaquin Arenas, Alejandro Lucia
Biology Open 2014 3: 1224-1227; doi: 10.1242/bio.20149548
Tertius Abraham Kohn
1UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands 7725, South Africa
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  • For correspondence: ta.kohn@uct.ac.za
Timothy David Noakes
1UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands 7725, South Africa
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Dale Elizabeth Rae
1UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands 7725, South Africa
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Juan Carlos Rubio
2Mitochondrial and Neuromuscular Diseases Laboratory, i+12 Research Institute, Hospital 12 de Octubre, 28041 Madrid, Spain
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Alfredo Santalla
3Department of Sport Science, Universidad Pablo de Olavide, 41013 Seville, Spain
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Gisela Nogales-Gadea
4Neuromuscular Diseases Unit, Institut de Recerca del Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, 08193 Barcelona, Spain
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Tomas Pinós
5Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), Universitat Autónoma de Barcelona, 08193 Barcelona, Spain
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Miguel A. Martín
2Mitochondrial and Neuromuscular Diseases Laboratory, i+12 Research Institute, Hospital 12 de Octubre, 28041 Madrid, Spain
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Joaquin Arenas
2Mitochondrial and Neuromuscular Diseases Laboratory, i+12 Research Institute, Hospital 12 de Octubre, 28041 Madrid, Spain
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Alejandro Lucia
2Mitochondrial and Neuromuscular Diseases Laboratory, i+12 Research Institute, Hospital 12 de Octubre, 28041 Madrid, Spain
6European University of Madrid, 28670 Madrid, Spain
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    Fig. 1. Separation of the myosin heavy chain (MHC) isoforms into three distinct bands using SDS-PAGE of a control and two McArdle patients.

    In each well, a total of 1 µg protein and 2.5 µg protein were loaded in the top and bottom gels, respectively.

  • Fig. 2.
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    Fig. 2. Myosin heavy chain isoform distribution in (A) Biceps brachii and (B) Vastus lateralis from healthy participants (closed circles) and patients diagnosed with McArdle disease (open circles).

    Values from the literature (bars) are included for both muscle groups as reference points (Klitgaard et al., 1990b). Where appropriate, data are presented as mean ± SD.

  • Table 1. Descriptive data of healthy control participants and McArdle patients
    Table 1.
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Keywords

  • Myosin heavy chain
  • Glycogen storage disease V
  • Phosphorylase deficiency

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Research Article
McArdle disease does not affect skeletal muscle fibre type profiles in humans
Tertius Abraham Kohn, Timothy David Noakes, Dale Elizabeth Rae, Juan Carlos Rubio, Alfredo Santalla, Gisela Nogales-Gadea, Tomas Pinós, Miguel A. Martín, Joaquin Arenas, Alejandro Lucia
Biology Open 2014 3: 1224-1227; doi: 10.1242/bio.20149548
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Research Article
McArdle disease does not affect skeletal muscle fibre type profiles in humans
Tertius Abraham Kohn, Timothy David Noakes, Dale Elizabeth Rae, Juan Carlos Rubio, Alfredo Santalla, Gisela Nogales-Gadea, Tomas Pinós, Miguel A. Martín, Joaquin Arenas, Alejandro Lucia
Biology Open 2014 3: 1224-1227; doi: 10.1242/bio.20149548

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