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