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...
Main Authors: | 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 |
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Format: | Article |
Language: | English |
Published: |
Wiley
2021-09-01
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Series: | Annals of Clinical and Translational Neurology |
Online Access: | https://doi.org/10.1002/acn3.51434 |
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