Figure S4.
Expression of ANO5-R58W mutant in human or mouse muscle.(A) Quantitative RT-PCR analysis from biopsied deltoid muscle of a human LGMD2L patient (n = 1) and tibialis anterior muscles of healthy control patients (Con, n = 2) with primers directed at three regions. ANO5-R58W mutant does not produce degraded ANO5 transcript. However, because exon 4 expression is reduced, there is the possibility that the transcript is alternatively spliced or uses an alternative start codon. ANO6 mRNA is shown as a comparison. Data are mean ± SEM. (B) ANO5-R58W-mCherry is detectable when expressed in mouse muscle fibers. Left panel is differential interference contrast (DIC). Middle panel is ANO5-R58W-Cherry fluorescence of the same fibers. White boxes indicate areas enlarged in the right panels. Scale bars = 10 µm.

Expression of ANO5-R58W mutant in human or mouse muscle. (A) Quantitative RT-PCR analysis from biopsied deltoid muscle of a human LGMD2L patient (n = 1) and tibialis anterior muscles of healthy control patients (Con, n = 2) with primers directed at three regions. ANO5-R58W mutant does not produce degraded ANO5 transcript. However, because exon 4 expression is reduced, there is the possibility that the transcript is alternatively spliced or uses an alternative start codon. ANO6 mRNA is shown as a comparison. Data are mean ± SEM. (B) ANO5-R58W-mCherry is detectable when expressed in mouse muscle fibers. Left panel is differential interference contrast (DIC). Middle panel is ANO5-R58W-Cherry fluorescence of the same fibers. White boxes indicate areas enlarged in the right panels. Scale bars = 10 µm.

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