A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
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
A fast Myosin super enhancer dictates muscle fiber phenotype through competitive interactions with Myosin genes
Sign Up to like & getrecommendations! Published in 2022 at "Nature Communications"
DOI: 10.1038/s41467-022-28666-1
Abstract: The contractile properties of adult myofibers are shaped by their Myosin heavy chain isoform content. Here, we identify by snATAC-seq a 42 kb super-enhancer at the locus regrouping the fast Myosin genes. By 4C-seq we show… read more here.
Keywords: myosin heavy; super enhancer; fast myosin; myosin genes ... See more keywords