Novel dominant distal titinopathy phenotype associated with copy number variation

Novel dominant distal titinopathy phenotype associated with copy number variation

Abstract 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...

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Détails bibliographiques
Auteurs principaux: Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, Corinne Thèze, Delphine Lacourt, Henri Pégeot, Emmanuelle Uro‐Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valérie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Métay, Mireille Cossée
Format: article
Langue:EN
Publié: Wiley 2021
Sujets:
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Accès en ligne:https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a
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Internet

https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a

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