A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
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DOI: 10.1002/acn3.51031
Abstract: Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy… read more here.
Keywords: titinopathy; heavy chain; congenital multicore; myosin heavy ... See more keywords