A novel mutation in the mitochondrial DNA transfer ribonucleic acid(ASP) gene in a child with myoclonic epilepsy and psychomotor regression

A novel A7543G mutation was found in the mitochondrial DNA transfer ribonucleic acidAsp gene in an 11-year-old girl with myoclonic seizures, developmental delay, and severe behavioral problems. Muscle histochemistry failed to show any ragged red fibers or cytochrome c oxidase-negative fibers, and mu...

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Veröffentlicht in:	Journal of child neurology 1999-09, Vol.14 (9), p.610
Hauptverfasser:	Shtibans, Alexander, El-Schahawi, Magda, Malkin, Elfrida, Shanske, Sara
Format:	Artikel
Sprache:	eng
Schlagworte:	Attention Deficit Hyperactivity Disorder Developmental Delays Epilepsy Evidence Expressive Language Family (Sociological Unit) Females Genetics Grade 1 Intelligence Quotient Interpersonal Relationship Mothers Patients Seizures Self Destructive Behavior
Online-Zugang:	Volltext
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