منابع مشابه
MELAS, MIDD and Beyond: m.3243A>G MT-TL1 Mutation in Adult Patients
m.3243A>G MT-TL1 mutation is the most common mitochondrial DNA mutation that results in a wide spectrum of disorders in a maternally inherited pedigree. In adult patients, many present with symptoms and signs indistinguishable from acquired diseases and the correct diagnosis is often delayed after many years. Nevertheless, clues suggesting m.3243A>G usually exist early in the disease course but...
متن کاملThe clinical heterogeneity of late-onset MELAS
We read with interest the response by Finsterer and Zarrouk-Mahjoub [1] to our manuscript ‘Case Report: 5 Year Follow-up of Adult Late-Onset Mitochondrial Encephalomyopathy with Lactic Acid and Stroke-Like Episodes (MELAS)’ [2–4]. We have the following responses: Regarding the doses of initial anti-epileptic medication (AEDs), since this was some time ago and at a different institution we do no...
متن کاملCosegregation of MIDD and MODY in a pedigree: functional and clinical consequences.
The aim of this study was characterization of a family carrying two mutations known to cause monogenic forms of diabetes, the M626K mutation in the HNF1alpha gene (MODY3) and the A3243G in mtDNA. Beta-cell function and insulin sensitivity were assessed with the Botnia clamp. Heteroplasmy of the A3243G mutation and variants in type 2 diabetes susceptibility genes were determined, and transcripti...
متن کاملStroke in MELAS is a Vasogenic Edema and Not Ischemic
We read with interest the article by Almasi et al. on a 48 years old female patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-like episodes (MELAS), diagnosed based on the clinical presentation, blood test results, and imaging and muscle biopsy findings . We have the following comments and concerns.
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...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2005
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.44.276