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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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| Publicado no: | J Neuromuscul Dis |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
IOS Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5123623/ https://ncbi.nlm.nih.gov/pubmed/27854229 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-160158 |
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