Population
Knockin mouse model with a premature stop codon in the nebulin gene, eliminating its C-terminal SH3 domain
Comparison
Genetic elimination of the C-terminal SH3 domain… vs Wild-type mice (implied)
Design
Preclinical
Authors
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Nebulin SH3 domain findings in mice leave open any role in human myopathy or cardiomyopathy; further validation required before clinical consideration.
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but protects against eccentric contraction-induced injury and may fine-tune excitation-contraction coupling.
Yamamoto et al. (2013) studied this question.
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