A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging

Titin (TTN) is a large gene with 363 exons that encodes a large abundant protein (longest known polypeptide in nature) that is expressed in cardiac and skeletal muscles. TTN has an important role in the sarcomere organization, assembly of muscles, transmission of the force at the Z-line, passive myo...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Algahtani, Hussein, Shirah, Bader, Algahtani, Raghad, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman, Naseer, Muhammad Imran
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6557229/
https://ncbi.nlm.nih.gov/pubmed/31218166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01052
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