نتایج جستجو برای: a3243g 5kb

تعداد نتایج: 218  

2014
H. MOSTAFA M. SAAD A. EL-ATTAR G. AHMED S. BERRETTINI F. FORLI G. SICILIANO M. MANCUSO

The aim of this study was to investigate the presence of mitochondrial DNA (mtDNA) alterations and metabolic dysfunctions in patients with presbyacusis, and to discover correlations between presbyacusis and the degree of hearing loss and mitochondrial damage. Seventy patients with presbyacusis were examined, including 40 Egyptian patients and 30 Italian patients. Forty eight normal subjects wer...

Journal: :Journal of medical genetics 1997
L Vilarinho F M Santorelli M J Rosas C Tavares M Melo-Pires S DiMauro

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...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2002
K C Chang Y F Mak W C Yu K K Lau W W Yan T C Chow

Mitochondrial myopathy is an important but uncommon cause of respiratory insufficiency in adults. We report the first case of respiratory insufficiency associated with adult-onset mitochondrial myopathy seen in a Chinese adult in Hong Kong. The patient presented with peripheral oedema and shortness of breath over 2 to 3 days. There was a history of gradual progressive limb weakness over approxi...

2018
Avish Kosari Hun-Seok Kim David D. Wentzloff

This paper presents a quadrature digital transmitter operating in the Multi-Use Radio Service (MURS) frequency band for low power and long-range IoT applications. We introduce a narrowband modulation scheme compliant with the MURS band as an alternative solution for low data-rate wide-area coverage. We present a transmitter architecture based on switched-current PA cells that uses a digital cla...

Journal: :Circulation. Heart failure 2012
Nicolas Stalder Nuray Yarol Piergiorgio Tozzi Samuel Rotman Michael Morris Florence Fellmann Juerg Schwitter Roger Hullin

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...

Journal: :European neurology 2006
N Curtò L Tremolizzo L Mattavelli M L Piatti L Marzorati L Guerra M G Grassi C Ferrarese

eralized epileptic dysfunction, more marked in the right regions, and phenytoin was started. Mild perceptive deafness was also present. CSF and plasma routine examination was normal. The EMG suggested a moderate axonal neuropathy, mainly involving the lower limbs. Since the muscular biopsy was compatible with mitochondrial involvement, leukocyte mitochondrial DNA was sequenced, showing an A3243...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1998
C M Sue D S Crimmins Y S Soo R Pamphlett C M Presgrave N Kotsimbos M J Jean-Francois E Byrne J G Morris

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...

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