Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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England: BMJ Publishing Group Ltd
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Background Nemaline myopathy—the most common non-dystrophic congenital myopathy—is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. Muscle weakness is a hal...
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Full title
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3865762
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3865762
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2012-101470
