Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation.
Wu
Yih-Ru
YR
Chen
Chiung-Mei
CM
Chao
Chih-Ying
CY
Lyu
Ron-Kuo
RK
Lee-Chen
Guey-Jen
GJ
D001224:Aspartic Acid / Q000235:genetics; D004252:DNA Mutational Analysis; D005998:Glycine / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D035781:Siblings; D013624:Taiwan; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods
D001224:Aspartic Acid; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D005998:Glycine