title: Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.
abstract: We describe a 16-year-old girl with mental retardation, myoclonic epilepsy, ataxia, mitochondrial myopathy, sensorineural hearing loss, lactic acidosis, and MRI evidence of diffuse subcortical laminar heterotopia and agyria/pachygyria. Restriction fragment length polymorphism (RFLP) and DNA sequence analyses revealed two pathogenic mutations: a heteroplasmic m.3243A>G in muscle and blood, and a new heterozygous insertion at nt697 in the doublecortin gene (DCX), resulting in a frameshift after amino acid residue 232, with a premature stop codon at amino acid residue 244. This is yet another example of genetic "double trouble" resulting in a complex phenotype.
authors.affiliation: Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, Italy. cscuderi@oasi.en.it
authors.forename: Carmela
authors.initials: C
authors.lastname: Scuderi
authors.forename: Eugenia
authors.initials: E
authors.lastname: Borgione
authors.forename: Filippa
authors.initials: F
authors.lastname: Castello
authors.forename: Mariangela
authors.initials: M
authors.lastname: Lo Giudice
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Carmelo
authors.initials: C
authors.lastname: Amato
authors.forename: Maria
authors.initials: M
authors.lastname: Savio
authors.forename: Francesco Domenico
authors.initials: FD
authors.lastname: Di Blasi
authors.forename: Girolamo Aurelio
authors.initials: GA
authors.lastname: Vitello
authors.forename: Salvatore
authors.initials: S
authors.lastname: Romano
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Sebastiano Antonino
authors.initials: SA
authors.lastname: Musumeci
mesh_terms: D000293:Adolescent; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics*; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics*; D016172:DNA Fingerprinting; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009479:Neuropeptides / Q000235:genetics; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D004247:DNA