Categoría: Articulos
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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…
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Genetic testing may help identify inherited blood disorder carrier status earlier
Mayo Clinic researchers have found that genetic testing can help identify people who carry inherited blood disorder traits, including individuals who may not otherwise know their carrier status. Earlier identification can create opportunities for genet…
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Differentiating sulfite intoxication and mitochondrial-related encephalopathy in neonates: a review
Introduction Main body Conclusions
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Halting muscular dystrophy with a ‘backup’ protein
A new use of CRISPR gene editing has halted and even reversed the progression of a model of Duchenne muscular dystrophy, according to work led by scientists at the Perelman School of Medicine. The technique boosted a protein, utrophin, as a stand-in to…
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Large-scale genetic study on Alzheimer’s identifies new DNA risks
A large-scale international study offers new insights for understanding Alzheimer’s disease and developing future treatments. The University of Exeter–led PROTECT study was part of the research, led by Vrije Universiteit Amsterdam and published in Natu…
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Comparison of DNA and RNA-Based Mutation Testing for Non-Small Cell Lung Cancer
Molecular testing for oncogenic mutations is standard of care for patients with non-small cell lung cancer. While DNA sequencing effectively captures actionable substitution and indel mutations, the ability of RNA-based methods to detect these alterati…