title: 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.
authors.forename: Hans H
authors.initials: HH
authors.lastname: Goebel
authors.forename: Knut
authors.initials: K
authors.lastname: Brockman
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: Irene A P
authors.initials: IA
authors.lastname: Warlo
authors.forename: Folker
authors.initials: F
authors.lastname: Hanefeld
authors.forename: Siegfried
authors.initials: S
authors.lastname: Labeit
authors.forename: Hayley J
authors.initials: HJ
authors.lastname: Durling
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000199:Actins / Q000235:genetics*; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D000199:Actins