title: Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
authors.forename: A M
authors.initials: AM
authors.lastname: Kaindl
authors.forename: F
authors.initials: F
authors.lastname: Rüschendorf
authors.forename: S
authors.initials: S
authors.lastname: Krause
authors.forename: H-H
authors.initials: HH
authors.lastname: Goebel
authors.forename: K
authors.initials: K
authors.lastname: Koehler
authors.forename: C
authors.initials: C
authors.lastname: Becker
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
authors.forename: G
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.forename: A
authors.initials: A
authors.lastname: Huebner
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D000199:Actins