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Clinicopathological features of titinopathy from a Chinese neuromuscular center.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2021

Huang Kun, Duan Hui-Qian, Li Qiu-Xiang, Luo Yue-Bei, Bi Fang-Fang, Yang Huan

Abstract excerpt

Titin, one of the largest proteins in humans, is a major component of muscle sarcomeres. Pathogenic variants in the titin gene (TTN) have been reported to cause a range of skeletal muscle diseases, collectively known as titinopathy. Titinopathy is a heterogeneous group of disabling diseases characterized by muscle weakness. In our study, we aimed to establish the clinicopathological-genetic spectrum of...

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PMID: 34553419
DOI: 10.1111/neup.12761

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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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