Extended Data Fig. 3: Muscle fiber type-specific protein content and GLUT4 immunostaining in muscle fibers from homozygous TBC1D4 p.Arg684Ter variant carriers.
a, Representative immunoblots for data related to figure panel 2 h. b, c, Distribution of Myosin Heavy Chains (MHC) (b) and regulatory metabolic (c) proteins in MHC-defined type 1 and type 2 skeletal muscle fiber bundles. d, Representative immunoblots. e, Quantification of GLUT4 imaging by confocal microscopy of isolated skeletal muscle fibers. n = 7 in Controls and n = 6 in TBC1D4 carriers (b, c). n = 15 fibers obtained from 3 subjects (4 to 6 fibers/subject) in each group (e). Data are means ± SEM. Data were analyzed using a two-tailed non-paired students t-test (e) as well as a two-way repeated ANOVA test (one factor repeated) and two-tailed Student-Newman-Keuls post hoc analyses for multiple comparisons (b, c). AU, arbitrary units. Scale bar in panel e is 10 µm.
