Alessia Perna, Luca Bosco, Fabiana Fattori, Eleonora Torchia, Anna Modoni, Manuela Papacci, Antonio Petrucci, Giorgio Tasca, Enzo Ricci, Enrico Silvio Bertini, Gabriella Silvestri
This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.19426+2T>A variants in TTN. The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14, whereas the c.19426+2T>A affects TTN alternative splicing...
February 8, 2024: Neuromuscular Disorders: NMD