The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
نویسندگان
چکیده
منابع مشابه
The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 1...
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A 35-year-old woman (body mass index, 16 kg/m ; height, 140 cm) presented to the emergency ward with severe dyspnea of acute onset. The medical history was noteworthy for bilateral hypacusis treated with a hearing aid. On admission, the laboratory results revealed an N-terminal prohormone of brain natriuretic peptide level of 10 219 ng/L (normal 200 ng/L). Thoracic CT scan excluded pulmonary em...
متن کاملThe mitochondrial A3243G mutation involves the peripheral vestibule as well as the cochlea.
OBJECTIVES/HYPOTHESIS To evaluate vestibular function in patients with the mitochondrial A3243G mutation. STUDY DESIGN Data from patients with the A3243G mutation attending an academic tertiary referral center were prospectively recorded. METHODS The clinical histories of 13 unrelated patients with the mitochondrial A3243G mutation (six mitochondrial encephalomyopathy, lactic acidosis, and ...
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We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-123I-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in dia...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.7.607