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The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibers explains the pathophysiology of Amish nemaline myopathy
A nonsense mutation at codon Glu180 of TNNT1 gene causes Amish Nemaline Myopathy (ANM), a recessively inherited disease with infantile lethality. TNNT1 encodes the slow skeletal muscle isoform of troponin T (ssTnT). The truncated ssTnT is unable to incorporate into myofilament and is degraded in mus...
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| Vydáno v: | J Physiol |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6675633/ https://ncbi.nlm.nih.gov/pubmed/31148174 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP278119 |
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