Arena syndrome is caused by a missense mutation in PLP1.

Stevenson, Roger E

Arena syndrome is caused by a missense mutation in PLP1. [electronic resource] - American journal of medical genetics. Part A May 2009 - 1081 p. digital

Publication Type: Journal Article

1552-4833

10.1002/ajmg.a.32795 doi


Basal Ganglia--metabolism
DNA Mutational Analysis
Exons--genetics
Humans
Iron--metabolism
Magnetic Resonance Imaging
Male
X-Linked Intellectual Disability--genetics
Mutation, Missense
Myelin Proteolipid Protein--genetics
Paraplegia--genetics
Pelizaeus-Merzbacher Disease--genetics
Syndrome
Thalamus--metabolism