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Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue
The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). To investigate the pathogenesis and muscle pathophysiology of ANM, we studied t...
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| Main Authors: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Blackwell publishing Ltd
2014
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| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3961093/ https://ncbi.nlm.nih.gov/pubmed/24445317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2013.268177 |
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