2015Neuromuscular DisordersOpen access

Molecular basis of stiff patient syndrome caused by mutations in ACTA1 and TPM3

Maria Papadaki, Steven B. Marston, M. Memo, Andrew E. Messer, Sandra Donkervoort, C. Bönnemann, Kristen L. Nowak, Royston Ong, E. McNamara

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Key concepts: Tropomyosin, Actin, Skeletal muscle, Mutant, Mutation, Protein filament, Biophysics, Chemistry

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