Article
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
International journal of molecular sciences - 3 Dec 2024
Perrin Aurélien, Garcia-Uzquiano Rocio, Stojkovic Tanya, Tard Céline, Metay Corinne, Bergougnoux Anne, Van Goethem Charles, Thèze Corinne, Larrieux Marion, Faure-Gautron Héloise, Laporte Jocelyn, Lefebvre Guillaume, Krahn Martin, Juntas-Morales Raul, Titin's Network Collaborators, Koenig Michel, Quijano-Roy Susana, Carlier Robert-Yves, Cossée Mireille
Abstract excerpt
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...
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