Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy
J Child Neurol. Bd. 21. H. 6. 2006 S. 545
Erscheinungsjahr: 2006
Publikationstyp: Zeitschriftenaufsatz
Geprüft | Bibliothek |
Autoren
Goebel, HH (Autor)
Brockman, K (Autor)
Bonnemann, CG (Autor)
Warlo, IA (Autor)
Hanefeld, F (Autor)
Labeit, S (Autor)
Durling, HJ (Autor)
Laing, NG (Autor)
Klassifikation
DDC Sachgruppe:
Medizin