Development and Phenotype Studies of a Slow Skeletal Troponin T E180 Nonsense Mutation Knock-In Mouse Line
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DOI: 10.1016/j.bpj.2016.11.658
Abstract: A nonsense mutation in codon Glu180 of TNNT1 gene encoding the slow skeletal muscle isoform of troponin T (ssTnT) causes a recessively inherited severe nemaline myopathy (Amish nemaline myopathy, ANM). Muscle biopsies of ANM patients… read more here.
Keywords: muscle; nonsense mutation; soleus muscle; sstnt ... See more keywords