Clinical and Genetic Spectrum of Titinopathy: A Turkish Pediatric Case Series.

This study expands the clinical and molecular understanding of titinopathies by identifying a novel TTN mutation associated with marked phenotypic variability, even within the same family. The findings underscore the significant heterogeneity of TTN-related myopathies and reinforce the necessity of comprehensive clinical and genetic evaluations for accurate diagnosis and effective genetic counseling.