An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation.
Lamont
P J
PJ
Jacob
R L
RL
Mastaglia
F L
FL
Laing
N G
NG
D018118:Chloride Channels / Q000235:genetics*; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D020967:Myotonic Disorders / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*
C086321:CLC-1 channel; C433227:CNBP protein, human; D018118:Chloride Channels; D016601:RNA-Binding Proteins