Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
IOS Press
2016
|
| Materias: | |
| 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 |