A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy

Clin Genet. 2017 Aug;92(2):230-231. doi: 10.1111/cge.12963. Epub 2017 Mar 30.

R A Sulaiman¹, N Patel², H Alsharif², S T Arold³, F S Alkuraya^{2

4}

¹ Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
³ Division of Biological and Environmental Sciences and Engineering, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
⁴ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

No abstract available

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