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Article

Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.

Journal of human genetics - 1 Feb 2023

Wang Guangyu, Zhao Dandan, Yan Chuanzhu, Lin Pengfei

Abstract excerpt

The TNNT1 gene encoding the slow skeletal muscle TnT has been identified as a causative gene for nemaline myopathy. TNNT1 nemaline myopathy is mainly characterized by neonatal-onset muscle weakness, pectus carinatum and respiratory insufficiency. Herein, we report on a Chinese girl with TNNT1 nemaline myopathy with mild clinical phenotypes without thoracic deformities or decreased respiratory function. Muscle...

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Identifiers

PMID: 36446828
DOI: 10.1038/s10038-022-01096-z

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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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