title: Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.
authors.forename: Laura Doria
authors.initials: LD
authors.lastname: Lamba
authors.forename: Paola
authors.initials: P
authors.lastname: Ciotti
authors.forename: Gaia
authors.initials: G
authors.lastname: Giribaldi
authors.forename: Emilio
authors.initials: E
authors.lastname: Di Maria
authors.forename: Alessandra
authors.initials: A
authors.lastname: Varese
authors.forename: Mauro
authors.initials: M
authors.lastname: Di Stadio
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
mesh_terms: D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D022821:RNA Splice Sites; D035781:Siblings; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D022821:RNA Splice Sites; D000096923:Frataxin