Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl
A M
AM
Rüschendorf
F
F
Krause
S
S
Goebel
H-H
HH
Koehler
K
K
Becker
C
C
Pongratz
D
D
Müller-Höcker
J
J
Nürnberg
P
P
Stoltenburg-Didinger
G
G
Lochmüller
H
H
Huebner
A
A
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
D000199:Actins