Article
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Acta neuropathologica communications - 21 Mar 2023
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
Abstract excerpt
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 myopathy characterized by multiple contractures, a rigid spine, non progressive muscular weakness, and a novel homozygous...
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