Increasing Role of Titin Mutations in Neuromuscular Disorders

The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated cardiomyopathy and several skeletal muscle disease...

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Detalles Bibliográficos
Autores principales: Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123623/
https://www.ncbi.nlm.nih.gov/pubmed/27854229
http://dx.doi.org/10.3233/JND-160158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123623/
https://www.ncbi.nlm.nih.gov/pubmed/27854229
http://dx.doi.org/10.3233/JND-160158

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