Spastic paraplegia, optic atrophy, and neuropathy
Definition:
References:
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[1]. Lucia I Macedo-Souza, et al. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol. 2005 May;57(5):730-7. [Content Brief]
[2]. Lúcia Inês Macedo-Souza, et al. Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. Ann Hum Genet. 2009 May;73(Pt 3):382-7. [Content Brief]
[3]. Uirá S Melo, et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. [Content Brief]