Article
Novel dominant distal titinopathy phenotype associated with copy number variation.
Annals of clinical and translational neurology - 1 Sept 2021
Perrin Aurélien, Juntas Morales Raul, Chapon Françoise, Thèze Corinne, Lacourt Delphine, Pégeot Henri, Uro-Coste Emmanuelle, Giovannini Diane, Leboucq Nicolas, Mallaret Martial, Lagrange Emmeline, Rigau Valérie, Gaudon Karen, Richard Pascale, Koenig Michel, Métay Corinne, Cossée Mireille
Abstract excerpt
The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most proximal out-of-frame TTN variant reported and leads to aberrant splicing transcripts leading to a frameshift. In this case,...
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