نتایج جستجو برای: a3243g
تعداد نتایج: 187 فیلتر نتایج به سال:
Maternally inherited diabetes and deafness (MIDD), also called mitochondrial diabetes mellitus, is a rare form of diabetes that comprises 0.5-2.8% of the diabetic population. Most cases of MIDD are associated with a point mutation in the mitochondrial DNA (mtDNA) at position 3243 of the leucine tRNA gene (A3243G) . Patients with MIDD are characterized by 1) young onset of diabetes, 2) absence o...
Objective: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. Method: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. Results: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle b...
Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia sensorineural hearing loss. This rare form of monogenic most commonly associated with the A3243G mutation mitochondrial DNA (mtDNA). The same seen in 80 percent patients MELAS (Mitochondrial encephalomyopathy lactic acidosis stroke-like episodes). MIDD have overlappi...
Abstract Background and Aims Mitochondrial Diseases represent a heterogeneous set of maternally inherited diseases that arise by mutations either the mitochondrial DNA (mtDNA) or in genes nuclear (nDNA) linked to cell cross-talk. Many mtDNA code for different are wide spectrum kidney manifestations ranging from focal segmental glomerulosclerosis (FSGS), tubule-interstitial disease (TIN), nephro...
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