Autor: Daniele Velardo
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MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides t…