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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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2023-03-01
coleção:	Acta Neuropathologica Communications
Assuntos:	Congenital myopathy Titin Titinopathy Rigid spine Metatranscript N2A titin isoform
Acesso em linha:	https://doi.org/10.1186/s40478-023-01539-4
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