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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482392/
https://www.ncbi.nlm.nih.gov/pubmed/35757965
http://dx.doi.org/10.1002/mgg3.2008

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