Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Abstract Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. In this study we describe a patient with a congenit...

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Bibliographic Details
Main Authors: Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti
Format: Article
Language:English
Published: BMC 2023-03-01
Series:Acta Neuropathologica Communications
Subjects:
Congenital myopathy
Titin
Titinopathy
Rigid spine
Metatranscript
N2A titin isoform
Online Access:https://doi.org/10.1186/s40478-023-01539-4

Internet

https://doi.org/10.1186/s40478-023-01539-4

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