Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Charles D
CD
Kassardjian
Margherita
M
Milone
D000328:Adult; D018118:Chloride Channels / Q000235:genetics*; D042622:DNA Repeat Expansion; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D009224:Myotonia Congenita / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D065636:Myotonin-Protein Kinase / Q000235:genetics*; D055815:Young Adult
C086321:CLC-1 channel; D018118:Chloride Channels; C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase