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• W2034209145 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." @default.
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• W2034209145 date "2010-08-01" @default.
• W2034209145 modified "2023-10-16" @default.
• W2034209145 title "Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex" @default.
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• W2034209145 doi "https://doi.org/10.1016/j.mito.2010.04.004" @default.
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