neurological finding of mitochondrial syndromes (merrf and melas)
نویسندگان
چکیده
pls see pdf.
منابع مشابه
Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.
A number of human diseases are caused by inherited mitochondrial DNA mutations. Two of these diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA. Here we report on how these mutations affect mitochondrial function ...
متن کاملNovel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
BACKGROUND The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragge...
متن کاملMERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
BACKGROUND Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochondrial tRNA(Lys) gene is a pathogenic mutations of MERRF. The m.3243A>G transition in the mitochondrial tRNA(Leu) gene is detected in most MELAS patien...
متن کاملHistochemical and molecular genetic study of MELAS and MERRF in Korean patients.
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) and myoclonic epilepsy and ragged-red fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial genome. To understand the pathogenetic mechanism of MELAS and MERRF, we studied four patients. Serially sectioned frozen muscle specimens with a battery of histochemical stai...
متن کاملMELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
The majority of pathogenic mitochondrial DNA (mtDNA) mutations are heteroplasmic, with both mutant and wild-type alleles present within the same individual. MtDNA is transmitted only from females to their offspring but a single female can bear offspring who harbour different levels of mutant mtDNA and have a variable phenotype. In single families, this complex genetic and phenotypic variability...
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Antiphospholipid syndrome (APS) is a systemic autoimmune disease with the appearance of anti-phospholipid antibody (ACLA), Anti β2GPI and lupus anticoagulant (LAC) in serum. The antigen-antibody reaction on cell surface leads to thrombosis, miscarriage and inflammation. Clinical findings are diverse and include thrombosis in veins and arteries, pregnancy loss, thrombocytopenia, neurological and...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۷، شماره ۴، صفحات ۱۵-۰
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