Neuromuscular and Systemic Presentations in Adults: diagnoses beyond MERRF and MELAS
نویسندگان
چکیده
منابع مشابه
Histochemical 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 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 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...
متن کاملMolecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals who harbour these mutations carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence of a direct relationship between the level of mutation and mitochondrial respiratory chain function in vitro, it has...
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ژورنال
عنوان ژورنال: Neurotherapeutics
سال: 2013
ISSN: 1933-7213,1878-7479
DOI: 10.1007/s13311-013-0188-3