Trepo - Selaus tekijän mukaan "Ranta-aho, Johanna"

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    • Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation 

      Ranta-aho, Johanna; Felice, Kevin J.; Jonson, Per Harald; Sarparanta, Jaakko; Yvorel, Cédric; Harzallah, Ines; Touraine, Renaud; Pais, Lynn; Austin-Tse, Christina A.; Ganesh, Vijay S.; O'Leary, Melanie C.; Rehm, Heidi L.; Hehir, Michael K.; Subramony, Sub; Wu, Qian; Udd, Bjarne; Savarese, Marco (2024)
      article
      <p>Objective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of ...