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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...
Sparad:
| I publikationen: | J Neuromuscul Dis |
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| Huvudupphovsmän: | , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
IOS Press
2016
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| Ämnen: | |
| Länkar: | 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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