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Abstract We report a family with congenital myopathy-16 (CMYO16; MIM 618524) due to a novel heterozygous MYBPC1 M-motif variant, c.779G>A p (Arg260His), in whom oral pyridostigmine was associated with apparent clinical benefit in all four affected members across three generations. To our knowledge, this is the first report of a possible clinical response to pyridostigmine in MYBPC1-associated congenital myopathy with tremor.
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