Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2068907 | Mitochondrion | 2010 | 7 Pages |
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.
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Authors
Carmela Scuderi, Eugenia Borgione, Filippa Castello, Mariangela Lo Giudice, Marco Fichera, Maurizio Elia, Carmelo Amato, Maria Savio, Francesco Domenico Di Blasi, Girolamo Aurelio Vitello, Salvatore Romano, Salvatore DiMauro,