A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
Ayumi MatsumotoHidetoshi TsudaSadahiro FuruiMasako Kawada-NagashimaTatsuya AnzaiMitsuru SekiKazuhisa WatanabeKazuhiro MuramatsuHitoshi OsakaSadahiko IwamotoIchizo NishinoTakanori YamagataPublished in: Molecular genetics & genomic medicine (2022)
Apoptosis induced in Met327Lys-transfected muscle cells supports the pathogenicity of the mutation and can be implicated as one of the histopathological features associated with CFTD, as in NM.