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Article

Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders.

Journal of human genetics - 1 Nov 2023

Wang Guangyu, Wu Wenjing, Lv Xiaoqing, Yan Chuanzhu, Lin Pengfei

Abstract excerpt

Mutations in the TTN gene have been reported to be responsible for a range of neuromuscular disorders, including recessive distal myopathy and congenital myopathy (CM). Only five splicing mutations have been identified to induce aberrant mRNA splicing in TTN-related neuromuscular disorders. In our study, we described detailed clinical characteristics, muscle pathology and genetic analysis of two probands with...

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PMID: 37407718
DOI: 10.1038/s10038-023-01182-w

Genes

TTN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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