지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 230 - 234 (5page)
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초록· 키워드
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Background Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of “LHON plus” have been reported.
Case Report The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria,and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum,and degenerative changes in the bilateral inferior olivary nucleus. Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations.
Conclusions These results suggest that the combination of G11778A and T3394C mutations leads to an atypical LHON phenotype.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Arnestad M / 2007 / A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome / Acta Paediatr 96 : 206 ~ 210
Beretta S / 2004 / Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines / Brain 127 : 2183 ~ 2192
Carelli V / 2004 / Mitochondrial dysfunction as a cause of optic neuropathies / Prog Retin Eye Res 23 : 53 ~ 89
Carelli V / 2006 / Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees / Am J Hum Genet 78
Carelli V / 2007 / Mitochondrial optic neuropathies: how two genomes may kill the same cell type? / Biosci Rep 27 : 173 ~ 184
Beretta S / 2004 / Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines / Brain 127 : 2183 ~ 2192
Carelli V / 2004 / Mitochondrial dysfunction as a cause of optic neuropathies / Prog Retin Eye Res 23 : 53 ~ 89
Carelli V / 2006 / Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees / Am J Hum Genet 78
Carelli V / 2007 / Mitochondrial optic neuropathies: how two genomes may kill the same cell type? / Biosci Rep 27 : 173 ~ 184
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