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

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...

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Bibliographic Details
Main Authors: Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51031

Internet

https://doi.org/10.1002/acn3.51031

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