Audiologic and Genetic Features of the A3243G mtDNA Mutation
نویسندگان
چکیده
منابع مشابه
MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions
This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome and Kearns-Sayre syndrome (KSS). He was admitted to our hospital with the chief complaint of "acute fever, headache and slow reaction for 21 days". He was initially misdiagnosed as "vir...
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The majority of pedigrees with autosomal dominant cerebellar ataxia (ADCA) harbour a pathological expansion of a trinucleotide repeat at one of five genetic loci: spinocerebellar ataxia (SCA) 1, 2, 3, 6, and 7. Other loci have been associated with ADCA in a limited number of families, but in a significant number of pedigrees the genetic basis remains uncertain. Mitochondrial DNA (mtDNA) defects...
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15 صفحه اولClinical features of MELAS and its relation with A3243G gene point mutation.
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A324...
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ژورنال
عنوان ژورنال: Genetic Testing and Molecular Biomarkers
سال: 2013
ISSN: 1945-0265,1945-0257
DOI: 10.1089/gtmb.2012.0403