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    • A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy 

      Lehtokari, Vilma Lotta; Sagath, Lydia; Davis, Mark; Ho, Desiree; Kiiski, Kirsi; Kettunen, Kaisa; Demczko, Matthew; Stein, Riki; Vatta, Matteo; Winder, Thomas L.; Shohet, Adi; Orenstein, Naama; Krcho, Peter; Bohuš, Peter; Huovinen, Sanna; Udd, Bjarne; Pelin, Katarina; Laing, Nigel G.; Wallgren-Pettersson, Carina (01 / 2023)
      article
      We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense ...