Article
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Neuromuscular disorders : NMD - 1 Nov 2020
Perrin Aurélien, Juntas Morales Raul, Rivier François, Cances Claude, Walther-Louvier Ulrike, Van Goethem Charles, Thèze Corinne, Lacourt Delphine, Pégeot Henri, Zenagui Reda, Uro-Coste Emmanuelle, Leboucq Nicolas, Malfatti Edoardo, Delaby Constance, Lehmann Sylvain, Rigau Valérie, Koenig Michel, Cossée Mireille
Abstract excerpt
Next generation sequencing (NGS) has allowed the titin gene (TTN) to be identified as a major contributor to neuromuscular disorders, with high clinical heterogeneity. The mechanisms underlying the phenotypic variability and the dominant or recessive pattern of inheritance are unclear. Titin is involved in the formation and stability of the sarcomeres. The effects of the different TTN variants can be harmless or...
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