Mitochondrial Encephalomyopathies: Incidence & DNA
نویسندگان
چکیده
منابع مشابه
NEWS and VIEWS: mitochondrial encephalomyopathies
135 Address for correspondence: Michelangelo Mancuso, Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy. Tel. +39 050 992440. Fax +39 050554808. E-mail: [email protected] In recent years, there has been a surge of interest in mitochondrial diseases, a group of metabolic conditions caused by impairment of the oxidative...
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Mitochondrial encephalomyopathies encompass a group of disorders that have impaired oxidative metabolism in skeletal muscles and central nervous system. As the field of mitochondrial medicine takes shape and physicians in all specialties become increasingly aware of respiratory chain or oxidative phosphorylation (OXPHOS) related disorders, their prevalence remains largely unknown. The unique fe...
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BACKGROUND Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS). We analyzed the mtDNA sequences from a group of 23 pediatric patients with clinical and morphological features of mitochondrial encephalopathies and tried to establish a re...
متن کاملMitochondrial encephalomyopathies: the enigma of genotype versus phenotype.
Over the past decade a large body of evidence has accumulated implicating defects of human mitochondrial DNA in the pathogenesis of a group of disorders known collectively as the mitochondrial encephalomyopathies. Although impaired oxidative phosphorylation is likely to represent the final common pathway leading to cellular dysfunction in these diseases, fundamental issues still remain elusive....
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By way of whole-exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated deficiency of the mitochondrial respiratory chain (MRC) complex I and compound heterozygous mutations in TARS2 in two siblings presenting with axial hypotonia and severe psychomotor delay associated with multiple MRC defects. The nucleoti...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2001
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-15-3-6