Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
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چکیده
منابع مشابه
Tubular aggregate myopathy associated with retinal degeneration.
CASE REPORT We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. COMMENTS Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in sk...
متن کاملVitelliform macular degeneration associated with mitochondrial myopathy.
A patient with mitochondrial myopathy is described. Examination of his fundus revealed bilateral vitelliform degeneration of the maculae. This lesion is a focal abnormality of the retinal pigment epithelium and may be a manifestation of the underlying mitochondrial disease.
متن کاملMitochondrial myopathy and myoclonic epilepsy.
The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed pho...
متن کاملCone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
PURPOSE To study cone photoreceptor structure and function associated with mutations in the second intradiscal loop region of peripherin/RDS. METHODS High-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy and spectral domain optical coherence tomography in four patients with peripherin/RDS mutations and 27 age-similar healthy subjects. Measures of reti...
متن کاملThe mitochondrial DNA mutations associated with cardiac arrhythmia investigated in an LQTS family
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2012
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2012.44