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

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 congenital myopat...

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Detalles Bibliográficos
Autores principales: Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J., Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B., Relaix, Frederic, Authier, François Jérôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031982/
https://www.ncbi.nlm.nih.gov/pubmed/36945066
http://dx.doi.org/10.1186/s40478-023-01539-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031982/
https://www.ncbi.nlm.nih.gov/pubmed/36945066
http://dx.doi.org/10.1186/s40478-023-01539-4

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