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Article

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

BMC medical genomics - 27 Jun 2024

Fan Lihong, Li Haibo, Xu Ying, Huang Yingzhi, Qian Yeqing, Jin Pengzhen, Shen Xueping, Li Zhi, Liu Mingsong, Liang Yufei, Shen Guosong, Dong Minyue

Abstract excerpt

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 congenital or childhood onset. The onset and severity of the features were considered to be correlated with the types and...

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Identifiers

PMID: 38937733
DOI: 10.1186/s12920-024-01946-z
PMCID: PMC11212154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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