A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease

Brain and Development

Volumn 31, Issue 3, 2009, Pages 248-251

  Kibe, Tetsuya ^a   Miyahara, Jun ^a   Yokochi, Kenji ^a   Iwaki, Akiko ^b  

^a SEIREI MIKATAHARA GENERAL HOSPITAL   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

Mild phenotype; Novel PLP point mutation; Pelizaeus Merzbacher disease

Indexed keywords

PROTEOLIPID PROTEIN;

ARTICLE; ATAXIA; CASE REPORT; CHILD; DISEASE SEVERITY; EXON; GAIT; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PRESCHOOL CHILD; SLURRED SPEECH; SPASTIC PARAPLEGIA; WALKING DIFFICULTY; WHITE MATTER;

BRAIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 59149105574     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.08.001     Document Type: Article

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