A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
Abstract 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...
Main Authors: | Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-09-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2008 |
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