Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia
نویسندگان
چکیده
منابع مشابه
Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
A young Thai male presented with bilateral visual loss and disc pallor. The 14484 mutation responsible for Leber's hereditary optic neuropathy (LHON) was identified on blood mitochondrial analysis. His visual loss was more severe than the visual loss described in Caucasian and Japanese patients and showed no improvement. He had no other identifiable mutations related to LHON nor any associated ...
متن کاملCase Report Right auditory dysfunction during acute Leber’s hereditary optic neuropathy harboring the 14484 mtDNA mutation: a case report
Puspose: We report a case of a 17-year-old man who developed right auditory dysfunction, one month after the onset of visual loss caused by Leber’s hereditary optic neuropathy (LHON). Methods: A full examination including a blood Mitochondrial DNA examination, auditory assessment and cranial magnetic resonance imaging were performed during the acute stage of the Leber’s hereditary optic neuropa...
متن کاملLeber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with the primary mitochondrial DNA (mtDNA) mutations at 11,778, 3460, and 14,484. The incidence of each mutation is reported to be race-dependent. Point mutations at mtDNA nucleotide position 11,778 and ...
متن کاملthe spectrum of mitochondrial dna mutations in iranian lebers hereditary optic neuropathy patients
we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2003
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-003-0042-2