Arena syndrome is caused by a missense mutation in PLP1.
Stevenson
Roger E
RE
JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA. res@ggc.org
Tarpey
Patrick
P
May
Melanie M
MM
Stratton
Michael R
MR
Schwartz
Charles E
CE
D001479:Basal Ganglia / Q000378:metabolism; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D020125:Mutation, Missense; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D013577:Syndrome; D013788:Thalamus / Q000378:metabolism
D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human; D007501:Iron