A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
Lee
Eun Sil
ES
Department of Pediatrics, Yeungnam University Hospital, Daegu, South Korea.
Moon
Han Ku
HK
Park
Yong Hoon
YH
Garbern
James
J
Hobson
Grace M
GM
D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007223:Infant; D007930:Leucine / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
D008565:Membrane Proteins; D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human; D012333:RNA, Messenger; D011392:Proline; D007930:Leucine