Arena syndrome is caused by a missense mutation in PLP1.

Abstract

Arena et al. [1992] described a family with X-linked mental retardation, spastic paraplegia, and decreased T2 MRI signal in the basal ganglia and thalamus suggesting iron deposition. Five males in two generations were affected. The craniofacial appearance was normal, but the lower limbs were underdeveloped and spastic. All had severe cognitive deficit… (More)
DOI: 10.1002/ajmg.a.32795

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Cite this paper

@article{Stevenson2009ArenaSI, title={Arena syndrome is caused by a missense mutation in PLP1.}, author={Roger Stevenson and P. Tarpey and Melanie M. May and Michael R. Stratton and Charles E. Schwartz}, journal={American journal of medical genetics. Part A}, year={2009}, volume={149A 5}, pages={1081} }