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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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Bibliografiska uppgifter
I publikationen:J Neuromuscul Dis
Huvudupphovsmän: Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Materialtyp: Artigo
Språk:Inglês
Publicerad: IOS Press 2016
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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