Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
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چکیده
منابع مشابه
Leigh syndrome: MRI findings in two children
Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic criteria. Recognising this MR imaging pattern in a child with neurological problems should prompt the clinician to investigate for Leigh syndro...
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چکیده ندارد.
15 صفحه اولChildhood moyamoya disease accompanying Leigh syndrome.
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, respiratory disorders a...
متن کاملSubacute necrotising encephalomyelopathy (Leigh’s disease; Leigh syndrome)
Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE) remained for many years a rare and intriguing enigma, of interest mainly to paediatric neurologists and neuropathologists. The more recent history of this disorder, now designated Leigh...
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Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2020
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-200510