title: Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: M S
authors.initials: MS
authors.lastname: Zaki
authors.affiliation: Pediatric Neurology Department, Cairo University, Cairo, Egypt.
authors.forename: L
authors.initials: L
authors.lastname: Selim
authors.affiliation: Pediatric Neurology Department, Cairo University, Cairo, Egypt.
authors.forename: L
authors.initials: L
authors.lastname: Mansour
authors.affiliation: Pediatric Neurology Department, Cairo University, Cairo, Egypt.
authors.forename: I G
authors.initials: IG
authors.lastname: Mahmoud
authors.affiliation: Neurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
authors.forename: A G
authors.initials: AG
authors.lastname: Fenstermaker
authors.affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.
authors.forename: S B
authors.initials: SB
authors.lastname: Gabriel
authors.affiliation: Neurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
authors.forename: J G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D000293:Adolescent; D018912:Arabs / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000235:genetics*; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D006899:Mixed Function Oxygenases; C019081:fatty acid alpha-hydroxylase