Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that affect the heart, such as dilated cardiomyopath...

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Main Authors: Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad
Format: Article
Language:English
Published: Elsevier 2023-07-01
Series:HGG Advances
Subjects:
exome sequencing
Mendelian disease
Mendelian disorder
congenital contractures
distal arthrogryposis
cardiomyopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000453

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http://www.sciencedirect.com/science/article/pii/S2666247723000453

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