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 |
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| container_title | Journal of child neurology |
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| creator | Shtibans, Alexander El-Schahawi, Magda Malkin, Elfrida Shanske, Sara |
| description | 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. |
| doi_str_mv | 10.1177/088307389901400910 |
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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.</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/088307389901400910</identifier><identifier>CODEN: JOCNEE</identifier><language>eng</language><publisher>Hamilton: SAGE PUBLICATIONS, INC</publisher><subject>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</subject><ispartof>Journal of child neurology, 1999-09, Vol.14 (9), p.610</ispartof><rights>Copyright Decker Periodicals, Inc. 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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.</abstract><cop>Hamilton</cop><pub>SAGE PUBLICATIONS, INC</pub><doi>10.1177/088307389901400910</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0883-0738 |
| ispartof | Journal of child neurology, 1999-09, Vol.14 (9), p.610 |
| issn | 0883-0738 1708-8283 |
| language | eng |
| recordid | cdi_proquest_journals_220414853 |
| source | SAGE Complete A-Z List |
| subjects | 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 |
| title | A novel mutation in the mitochondrial DNA transfer ribonucleic acid(ASP) gene in a child with myoclonic epilepsy and psychomotor regression |
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