Leber disease

出典: meddic


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  • CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
  • Zhong H1, Chen Y2, Li Y2, Chen R3, Mardon G4.
  • Scientific reports.Sci Rep.2015 Feb 10;5:8366. doi: 10.1038/srep08366.
  • The era of genomics has demanded the development of more efficient and timesaving approaches to validate gene function in disease. Here, we utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought
  • PMID 25666713
  • [Chest pain - not always the heart! Clinical impact of gastrointestinal diseases in non-cardiac chest pain].
  • Frieling T1, Bergdoldt G2, Allescher HD3, Riemann JF4.
  • Zeitschrift für Gastroenterologie.Z Gastroenterol.2015 Feb;53(2):120-4. doi: 10.1055/s-0034-1385770. Epub 2015 Feb 10.
  • Non cardiac chest pain (NCCP) are recurrent angina pectoris like pain without evidence of coronary heart disease in conventional diagnostic evaluation. The prevalence of NCCP is up to 70 % and may be detected in this order at all levels of the medical health care system (general practitioner, emer
  • PMID 25668714
  • Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.
  • Piotrowska A1, Korwin M2, Bartnik E3, Tońska K4.
  • Gene.Gene.2015 Jan 15;555(1):41-9. doi: 10.1016/j.gene.2014.09.048. Epub 2014 Sep 26.
  • Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was
  • PMID 25261848


  • Basedow病を合併したLeber遺伝性視神経症の1例
  • 三宅 琢,奥貫 陽子,若林 美宏 [他]
  • 眼科臨床紀要 3(2), 133-136, 2010
  • NAID 40017004404
  • 視神経疾患のロービジョンケア
  • 若倉 雅登
  • 日本眼科紀要 = Folia ophthalmologica Japonica 58(3), 138-141, 2007-03-28
  • NAID 10019748597


In this paper Leber described four families in which a number of young men suffered abrupt loss of vision in both eyes either simultaneously or sequentially. This disease was initially thought to be X linked but was subsequently shown to be ...
For example, the crucial cellular damage which leads to nerve cell death and blindness in Leber's Hereditary Optic Neuropathy is similar to nerve cell damage that occurs in Parkinson's disease, Alzheimer's disease and glaucoma.





  [★] レーベル遺伝性視神経症



Leber hereditary optic neuropathy, LHON, Leber's hereditary optic neuropathy
レーバー遺伝性視神経萎縮症 Leber遺伝性視神経萎縮症 Leber hereditary optic atrophyレーバー視神経萎縮症 Leber optic neuropathy, レーベル病 Leber disease Leber's disease
[show details]
  • ミトコンドリアDNA点変異による遺伝性視神経疾患



  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意

WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」



WordNet   license wordnet

「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

PrepTutorEJDIC   license prepejdic

「病気にかかった / 病的な,不健全な(morbid)」