title: A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: R A
authors.initials: RA
authors.lastname: Sulaiman
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: N
authors.initials: N
authors.lastname: Patel
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: H
authors.initials: H
authors.lastname: Alsharif
authors.affiliation: Division of Biological and Environmental Sciences and Engineering, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
authors.forename: S T
authors.initials: ST
authors.lastname: Arold
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: F S
authors.identifier: 0000-0003-4158-341X
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D008958:Models, Molecular; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D028061:Phosphate Transport Proteins / Q000235:genetics* / Q000378:metabolism; D011487:Protein Conformation
chemical_list: D024101:Mitochondrial Proteins; D028061:Phosphate Transport Proteins; C584459:SLC25A46 protein, human