Article

A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Journal of Child Neurology (impact factor: 1.75). 10/1999; 14(9):610-3. pp.610-3
Source: PubMed

ABSTRACT 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 muscle biochemistry showed partial cytochrome c oxidase deficiency. The mutation was heteroplasmic in muscle, fibroblasts, and blood from the patient and in blood from other affected family members, and the proportion of mutant mitochondrial DNA correlated with the severity of symptoms.

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Keywords

11-year-old girl
 
affected family members
 
cytochrome c oxidase-negative fibers
 
developmental delay
 
mitochondrial DNA transfer ribonucleic acidAsp gene
 
muscle biochemistry
 
Muscle histochemistry
 
mutant mitochondrial DNA correlated
 
myoclonic seizures
 
novel A7543G mutation
 
partial cytochrome c oxidase deficiency
 
ragged red fibers
 
symptoms