title: Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.
authors.affiliation: Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
authors.forename: S
authors.initials: S
authors.lastname: Donkervoort
authors.forename: J
authors.initials: J
authors.lastname: Dastgir
authors.forename: Y
authors.initials: Y
authors.lastname: Hu
authors.forename: W M
authors.initials: WM
authors.lastname: Zein
authors.forename: H
authors.initials: H
authors.lastname: Marks
authors.forename: C
authors.initials: C
authors.lastname: Blackstone
authors.forename: C G
authors.initials: CG
authors.lastname: Bönnemann
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D018703:Founder Effect; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000209:etiology / Q000235:genetics*
chemical_list: D006899:Mixed Function Oxygenases; C019081:fatty acid alpha-hydroxylase