Novel p.Asp27Glu ACTA1 Variant Features Congenital Myopathy with Finger Flexor Weakness, Cardiomyopathy, and Cardiac Conduction Defects

Autor:	Bridget Mulvany-Robbins, Brendan Putko, Laura Schmitt, Gavin Oudit, Cecile Phan, Grayson Beecher
Rok vydání:	2023
Předmět:	Neurology Pediatrics Perinatology and Child Health Neurology (clinical) Genetics (clinical)
Zdroj:	Neuromuscular Disorders.
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2023.05.009
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::b69c9efc48fbc0a201b56d9a267f47a9 https://doi.org/10.1016/j.nmd.2023.05.009 Zobrazit plný text záznamu Full Text from ScienceDirect