@article{5750007b163448f6a03679842105e401,
title = "A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency",
abstract = "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 isoforms. This is the first observation of a titinopathy suggesting that titin defect leads to secondary loss of fast myosin heavy chain isoforms.",
author = "Aur{\'e}lien Perrin and Corinne Metay and Marcello Villanova and Carlier, {Robert Yves} and Elena Pegoraro and {Juntas Morales}, Raul and Tanya Stojkovic and Isabelle Richard and Pascale Richard and Romero, {Norma B.} and Henk Granzier and Michel Koenig and Edoardo Malfatti and Mireille Coss{\'e}e",
note = "Funding Information: The authors thank the Myobank‐AFM for providing control muscle biopsies. The authors would like to thank Dr Gis{\`e}le Bonne for her coordination of the French Titin Consortium and all consortium participants for fruitful discussion about these cases. We thank Karen Gaudon, Corinne Th{\`e}ze, Ang{\'e}line Madelaine and Ana{\"i}s Chanut for technical assistance. This work was funded by AFM 21384 grant (The French Muscular Dystrophy Association [AFM‐T{\'e}l{\'e}thon]) and the D{\'e}l{\'e}gation {\`a} la Recherche Clinique et {\`a} l'Innovation du Groupement de Coop{\'e}ration Sanitaire de la Mission d'Enseignement, de Recherche, de R{\'e}f{\'e}rence et d'Innovation (DRCI‐GCS‐MERRI) de Montpellier‐N{\^i}mes. Funding Information: This work was funded by AFM 21384 grant (The French Muscular Dystrophy Association (AFM‐T{\'e}l{\'e}thon)) and the D{\'e}l{\'e}gation {\`a} la Recherche Clinique et {\`a} l'Innovation du Groupement de Coop{\'e}ration Sanitaire de la Mission d'Enseignement, de Recherche, de R{\'e}f{\'e}rence et d'Innovation (DRCI‐GCS‐MERRI) de Montpellier‐N{\^i}mes. Funding Information: This work was funded by AFM 21384 grant (The French Muscular Dystrophy Association (AFM-T?l?thon)) and the D?l?gation ? la Recherche Clinique et ? l'Innovation du Groupement de Coop?ration Sanitaire de la Mission d'Enseignement, de Recherche, de R?f?rence et d'Innovation (DRCI-GCS-MERRI) de Montpellier-N?mes. The authors thank the Myobank-AFM for providing control muscle biopsies. The authors would like to thank Dr Gis?le Bonne for her coordination of the French Titin Consortium and all consortium participants for fruitful discussion about these cases. We thank Karen Gaudon, Corinne Th?ze, Ang?line Madelaine and Ana?s Chanut for technical assistance. This work was funded by AFM 21384 grant (The French Muscular Dystrophy Association [AFM-T?l?thon]) and the D?l?gation ? la Recherche Clinique et ? l'Innovation du Groupement de Coop?ration Sanitaire de la Mission d'Enseignement, de Recherche, de R?f?rence et d'Innovation (DRCI-GCS-MERRI) de Montpellier-N?mes. Publisher Copyright: {\textcopyright} 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2020",
month = may,
day = "1",
doi = "10.1002/acn3.51031",
language = "English (US)",
volume = "7",
pages = "846--854",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Ltd",
number = "5",
}