Fig. 2
![Fig. 2](http://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs12920-021-00950-x/MediaObjects/12920_2021_950_Fig2_HTML.png)
a A hemizygous mutation (c.611G>A; p.R204Q) in the proband with XLSA. b The proband’ son had no mutation at C.611. c The proband’ daughter harbored a heterozygous mutation (c.611G>A; p.R204Q)
a A hemizygous mutation (c.611G>A; p.R204Q) in the proband with XLSA. b The proband’ son had no mutation at C.611. c The proband’ daughter harbored a heterozygous mutation (c.611G>A; p.R204Q)