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

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Bibliographic Details
Title: Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Authors: Cardone, Nastasia1 (AUTHOR), Moula, Melissa1 (AUTHOR), Baelde, Rianne J.2 (AUTHOR), Biquand, Ariane3 (AUTHOR), Villanova, Marcello4 (AUTHOR), Metay, Corinne5 (AUTHOR), Fiorillo, Chiara6 (AUTHOR), Baratto, Serena6 (AUTHOR), Merlini, Luciano7 (AUTHOR), Sabatelli, Patrizia8,9 (AUTHOR), Romero, Norma B.10 (AUTHOR), Relaix, Frederic1 (AUTHOR), Authier, François Jérôme1,11 (AUTHOR), Taglietti, Valentina1 (AUTHOR), Savarese, Marco12 (AUTHOR), de Winter, Josine2 (AUTHOR), Ottenheijm, Coen2 (AUTHOR), Richard, Isabelle3 (AUTHOR), Malfatti, Edoardo1,11 (AUTHOR) edoardo.malfatti@aphp.fr
Source: Acta Neuropathologica Communications. 3/21/2023, Vol. 11 Issue 1, p1-10. 10p.
Database: Academic Search Ultimate
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Description
ISSN:20515960
DOI:10.1186/s40478-023-01539-4