Article
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
Molecular genetics & genomic medicine - 1 Sept 2022
Matsumoto Ayumi, Tsuda Hidetoshi, Furui Sadahiro, Kawada-Nagashima Masako, Anzai Tatsuya, Seki Mitsuru, Watanabe Kazuhisa, Muramatsu Kazuhiro, Osaka Hitoshi, Iwamoto Sadahiko, Nishino Ichizo, Yamagata Takanori
Abstract excerpt
BACKGROUND: Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber-type disproportion (CFTD). CFTD is characterized by type 1 fiber atrophy and distinguished from NM in the absence of rods. Eight patients with CFTD, including one patient with dilated cardiomyopathy (DCM), have previously been reported. Herein, we report the case of a 10-year-old boy...
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