Novel dominant distal titinopathy phenotype associated with copy number variation

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419403/
https://www.ncbi.nlm.nih.gov/pubmed/34312993
http://dx.doi.org/10.1002/acn3.51434

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419403/
https://www.ncbi.nlm.nih.gov/pubmed/34312993
http://dx.doi.org/10.1002/acn3.51434

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