Autor: Leping Li
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Case Report: MYBPC1-associated congenital myopathy with tremor (CMYO16): a multigenerational family report
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 acros…