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

• Main Authors: Lihong Fan (Author), Haibo Li (Author), Ying Xu (Author), Yingzhi Huang (Author), Yeqing Qian (Author), Pengzhen Jin (Author), Xueping Shen (Author), Zhi Li (Author), Mingsong Liu (Author), Yufei Liang (Author), Guosong Shen (Author), Minyue Dong (Author)
• Format: Book
• Published: BMC, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...