Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

Abstract excerpt

Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders. OBJECTIVE: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum. METHODS: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families....