A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
actin
alpha
apoptosis
congenital fiber‐type disproportion
dilated cardiomyopathy
skeletal muscle 1
Online Access:https://doi.org/10.1002/mgg3.2008

Internet

https://doi.org/10.1002/mgg3.2008

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