For P1, open deltoid muscle and radialis muscle biopsies were respectively obtained at 9 and 45 years of age. Conventional histological and histochemical techniques on 10 μm cryostat sections encompassed Haematoxylin and Eosin (H&E), Gomori Trichrome (GT), Nicotinamide adenosine dinucleotide–tetrazolium reductase (NADH-TR), Succinate dehydrogenase (SDH), and myosin adenosine triphosphatase (ATPase pH 9.4) reactions. Digital photographs were obtained with a
Zeiss AxioCam HRc linked to a
Zeiss Axioplan Bright Field Microscope and processed with the
Axio Vision 4.4 software (Zeiss, Oberkochen, Germany).
For P2, open muscle biopsy of the quadriceps was obtained at 19 years of age. Digital photographs were obtained with a
Zeiss AxioCam MRc5 linked to a Zeiss Imager Bright Field Microscope and processed with the
AxioVision software (Zeiss).
Murine tibialis anterior muscles were sampled in isopentane cooled in liquid nitrogen, and transversal or longitudinal cryosections (8 μm) were fixed and stained with H&E, SDH, and GT. Images were acquired with the Hamamatsu
NanoZoomer 2HT slide-scanner (Hamamatsu, Hamamatsu city, Japan).
Lornage X., Romero N.B., Grosgogeat C.A., Malfatti E., Donkervoort S., Marchetti M.M., Neuhaus S.B., Foley A.R., Labasse C., Schneider R., Carlier R.Y., Chao K.R., Medne L., Deleuze J.F., Orlikowski D., Bönnemann C.G., Gupta V.A., Fardeau M., Böhm J, & Laporte J. (2019). ACTN2 mutations cause “Multiple structured Core Disease” (MsCD). Acta neuropathologica, 137(3), 501-519.