Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype–Phenotype Correlations, and Outcomes
Yu Zheng, Mengmeng Shi, Yilin Zhao, Teresa Cheuk Yan Chung, Matthew Hoi Kin Chau, Zirui Dong, Yvonne Ka Yin Kwok, Hoi Wan Angel Kwan, Josephine Shuk Ching Chong, Tak Yeung Leung, Tsz Kin Lo, Kwong Wai Choy, Yanyan Zhang, Ye Cao · 2026
Read Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype–Phenotype Correlations, and Outcomes by Yu Zheng, Mengmeng Shi, Yilin Zhao, Teresa Cheuk Yan Chung, Matthew Hoi Kin Chau, Zirui Dong, Yvonne Ka Yin Kwok, Hoi Wan Angel Kwan, Josephine Shuk Ching Chong, Tak Yeung Leung, Tsz Kin Lo, Kwong Wai Choy, Yanyan Zhang, Ye Cao (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13257078.txt.
Description
Yu Zheng and a large team examine prenatal-onset recessive titin disease in a 2026 cohort study. Faulty copies of the TTN gene, inherited from both parents, can range from fetal loss to slowly progressive muscle weakness. Counseling families is hard because the gene is huge and its splicing is complex.
Ninety-six prenatal cases from seventy-six families were assembled from published reports and a hospital center. Reduced fetal movement appeared in most cases, followed by joint contractures and fluid problems. About two-thirds of pregnancies with known outcomes reached birth, while others ended in termination or loss. Variant locations were plotted across gene regions and tested against severe outcomes. Genetic counselors gain pattern data for a rare condition. The authors aim to sharpen predictions made before birth.
Catalog record
| CREATOR | Yu Zheng, Mengmeng Shi, Yilin Zhao, Teresa Cheuk Yan Chung, Matthew Hoi Kin Chau, Zirui Dong, Yvonne Ka Yin Kwok, Hoi Wan Angel Kwan, Josephine Shuk Ching Chong, Tak Yeung Leung, Tsz Kin Lo, Kwong Wai Choy, Yanyan Zhang, Ye Cao |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 35 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |