Abnormal cellular phenotypes induced by three tmpo/lap2 variants identified in men with cardiomyopathies

HIGHLIGHTS

  • who: Nathalie Vadrot and colleagues from the , Paris, France have published the research work: Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies, in the Journal: Cells 2023, 12, 337. of /2023/
  • what: The authors report (i) the clinical phenotype of six male patients diagnosed of cardiomyopathy (HCM or DCM), harboring three new TMPO variants and_(ii) the cellular properties of these new TMPO variants, in comparison with the previously reported p.(Arg690Cys) variant . The authors focused the study on the impact of the TMPO mutations on the expression level . . .

     

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