Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Wieczorek
Stefan
S
Arning
Larissa
L
Gizewski
Elke R
ER
Alheite
Ingrid
I
Timmann
Duymal
D
D000368:Aged; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D005858:Germany; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology
C087857:protein kinase C gamma; D011493:Protein Kinase C