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Article

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal of neuromuscular diseases - 30 Aug 2016

Savarese Marco, Sarparanta Jaakko, Vihola Anna, Udd Bjarne, Hackman Peter

Abstract excerpt

The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated cardiomyopathy and several skeletal muscle diseases.Before the introduction of next generation sequencing (NGS) methods, the molecular analysis of TTN has been...

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Source

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Identifiers

PMID: 27854229
DOI: 10.3233/JND-160158
PMCID: PMC5123623

Genes

TTN

Provenance

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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