Neuroradiological features of six kindreds with MELAS tRNALeu A3243G point mutation: implications for pathogenesis
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چکیده
منابع مشابه
Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.
OBJECTIVE To determine the neuroradiological abnormalities associated with subjects carrying the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) tRNA(Leu)(UUR) A3243G point mutation METHODS Mitochondrial genetic analysis was performed on 24 subjects from six kindreds with the MELAS tRNA(Leu)(UUR) A3243G point mutation. Cerebral CT and MRI were performe...
متن کاملClinical 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...
متن کاملMELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...
متن کاملLack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes
Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...
متن کاملClinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.
BACKGROUND Comparative studies of clinical and magnetic resonance imaging findings in patients with spinocerebellar ataxias (SCAs) have been seldom reported. OBJECTIVE To investigate clinical, genetic, and neuroradiological characteristics of SCAs in Korean kindreds. SETTING University hospital. PATIENTS AND METHODS Molecular analysis of SCA types 1, 2, 3, 6, and 7 and dentatorubral palli...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1998
ISSN: 0022-3050
DOI: 10.1136/jnnp.65.2.233