A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency - Institut de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition Accéder directement au contenu
Article Dans Une Revue Annals of Clinical and Translational Neurology Année : 2020

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

Marcello Villanova
  • Fonction : Auteur

Résumé

Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy harboring three TTN variants predicted to affect titin stability and titin-myosin interactions. Muscle biopsies showed multicores, type 1 fiber uniformity and sarcomeric structure disruption with some thick filament loss. Immunohistochemistry and Western blotting revealed a marked reduction of fast myosin heavy chain iso-forms. This is the first observation of a titinopathy suggesting that titin defect leads to secondary loss of fast myosin heavy chain isoforms.
Fichier principal
Vignette du fichier
acn3.51031.pdf (1.33 Mo) Télécharger le fichier
Origine : Publication financée par une institution
Loading...

Dates et versions

hal-02573441 , version 1 (14-05-2020)

Identifiants

Citer

Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert-Yves Carlier, Elena Pegoraro, et al.. A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51031⟩. ⟨hal-02573441⟩
128 Consultations
100 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More