Identification of four TTN variants in three families with fetal akinesia deformation sequence

Identification of four TTN variants in three families with fetal akinesia deformation sequence

Abstract Background TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with c...

Full description

Bibliographic Details
Main Authors: Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang, Guosong Shen, Minyue Dong
Format: Article
Language:English
Published: BMC 2024-06-01
Series:BMC Medical Genomics
Subjects:
TTN
Whole-exome sequencing
Fetal akinesia deformation sequence (FADS)
RT-PCR
Meta transcript-only
Online Access:https://doi.org/10.1186/s12920-024-01946-z

Internet

https://doi.org/10.1186/s12920-024-01946-z

Similar Items