Phenotype-specific muscle proteomic profiling in titinopathies.

doi:10.1186/s40478-026-02363-2

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Article

Phenotype-specific muscle proteomic profiling in titinopathies.

Acta neuropathologica communications - 2 Jul 2026

Perrin Aurélien, Casenave-Camgaston Marie-Rocio, Rabillard Baptiste, Raynaud Fabrice, Urbach Serge, Seveno Martial, Navarro Ana Maria, Tendero-Baziou Anas, Matecki Stephan, Cancès Claude, Durigneux Julien, Biancalana Valérie, Petit Florence, Tard Céline, Molin Arnaud, Godin Manon, Latypova Xénia, Rendu John, Jeanne Médéric, Juntas Morales Raul, Salort-Campana Emmanuelle, Verschueren Annie, Krahn Martin, Gorokhova Svetlana, Attarian Shahram, Solé Guilhem, Esselin Florence, Martin-Négrier Marie-Laure, Métay Corinne, Jorgensen Christian, Bergougnoux Anne, Koenig Michel, Cossée Mireille

Abstract excerpt

Titinopathies are complex neuromuscular disorders with multiple phenotypes. The gene's size, comprising 364 exons, as well as the protein's size of 3.8 MDa and its extensive network of protein interactors, are key factors underlying this complexity. Various phenotypes characterize titinopathies, and this study focuses on two of them: arthrogryposis and myofibrillar myopathies. The protein deregulations associated...

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Topics

Humans
Phenotype
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Arthrogryposis

Muscle, Skeletal

Male

Proteomics

Adult

Middle Aged

Myopathies, Structural, Congenital

Connectin

Young Adult

Muscle Proteins

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 42393765
DOI: 10.1186/s40478-026-02363-2
PMCID: PMC13602786

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