TNNT1 nemaline myopathy: natural history and therapeutic frontier

We describe the natural history of ‘Amish’ nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a. TnT). The TNNT1 c.505G>T allele has a carrier frequency of 6.5% w...

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Détails bibliographiques
Publié dans:Hum Mol Genet
Auteurs principaux: Fox, Michael D, Carson, Vincent J, Feng, Han-Zhong, Lawlor, Michael W, Gray, John T, Brigatti, Karlla W, Jin, J -P, Strauss, Kevin A
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2018
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6121192/
https://ncbi.nlm.nih.gov/pubmed/29931346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy233
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