Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

ABSTRACT: Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic TTN variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages. The 20 patients with recessive inheritance exhibited a heterogeneous range of phenotypes. These included fetal lethality, progressive weakness, cardiac or respiratory complications, hyper-CKemia, or dystrophic muscle bio

SUBMITTER: Perrin A 

PROVIDER: S-EPMC11641062 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature