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

Shtilbans, A; El-Schahawi, M; Malkin, E; Shanske, S; Musumeci, O; DiMauro, S

Shtilbans, A; El-Schahawi, M; Malkin, E; Shanske, S; Musumeci, O; DiMauro, S.

Afiliación

Shtilbans A; 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.

J Child Neurol ; 14(9): 610-3, 1999 Sep.

Article en En | MEDLINE | ID: mdl-10488907

RESUMEN

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.

Asunto(s)

ADN Mitocondrial/genética; Epilepsias Mioclónicas/complicaciones; Epilepsias Mioclónicas/genética; Trastornos Psicomotores/complicaciones; Trastornos Psicomotores/genética; ARN de Transferencia de Aspártico/genética; Biopsia; Niño; Análisis Mutacional de ADN; Discapacidades del Desarrollo/complicaciones; Discapacidades del Desarrollo/genética; Complejo IV de Transporte de Electrones/metabolismo; Femenino; Humanos; Músculos/metabolismo; Músculos/patología; Linaje; Mutación Puntual/genética; Trastorno de la Conducta Social/complicaciones; Trastorno de la Conducta Social/genética

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Psicomotores / ADN Mitocondrial / ARN de Transferencia de Aspártico / Epilepsias Mioclónicas Límite: Child / Female / Humans Idioma: En Revista: J Child Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 1999 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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