NARP syndrome

出典: meddic

神経性薄弱運動失調網膜色素変性症NARP症候群

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/02/22 20:35:49」(JST)

wiki en

[Wiki en表示]

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

英文文献

  • A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome.
  • Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.SourceDept. of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: mdunoe@rh.dk.
  • Gene.Gene.2013 Feb 25;515(2):372-5. doi: 10.1016/j.gene.2012.12.066. Epub 2012 Dec 20.
  • The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel
  • PMID 23266623
  • Posterior leukoencephalopathy in NARP syndrome.
  • Renard D, Labauge P.SourceDepartment of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029, Nîmes Cedex 4, France, dimitrirenard@hotmail.com.
  • Acta neurologica Belgica.Acta Neurol Belg.2012 Dec;112(4):417-8. doi: 10.1007/s13760-012-0081-6. Epub 2012 May 12.
  • PMID 22581516
  • Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.
  • Kara B, Arıkan M, Maraş H, Abacı N, Cakıris A, Ustek D.SourceMedical Faculty, Deparment of Pediatrics, Division of Child Neurology, Kocaeli University, Kocaeli, Turkey. bulentkara@excite.com
  • Molecular genetics and metabolism.Mol Genet Metab.2012 Nov;107(3):389-93. doi: 10.1016/j.ymgme.2012.06.013. Epub 2012 Jul 10.
  • Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa) or MILS (maternally inherited Leigh syndrome). The rare T8993C mutation in the MT-ATP6 gene is generally considered to be clinically milder, but there is marked clini
  • PMID 22819295

和文文献

  • ミトコンドリアDNA 8729 G>A変異をみとめたneurogenic muscle weakness, ataxia, and retinitis pigmentosa(NARP)の1例
  • 網膜色素変性症を伴いミトコンドリアDNA T8993C変異を認めたミトコンドリア脳筋症
  • 神経眼科 = Neuro-ophthalmology Japan 17(3), 306-314, 2000-09-25
  • NAID 10012786571
  • ミトコンドリア DNA 塩基番号 8993 の一塩基置換の相違により異なる臨床経過を呈したと考えられた Leigh 脳症の2例

関連リンク

NARP syndrome symptoms, causes, diagnosis, and treatment information for NARP syndrome (Neuropathy ataxia and retinis pigmentosa) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
Mitochondrial (mt) DNA-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of ...

関連画像

 | Retinopathy of NARP SyndromeForever Mom2n8: Mitochondrial DiseaseBraden Mark Wilson's Blog: The Diagnosis  and retinitis pigmentosa (NARP) syndrome syndrome (deletions), Leighs diseaseGenetics III flashcards | Quizlet


★リンクテーブル★
先読みNARP症候群
リンク元神経性薄弱運動失調網膜色素変性症
関連記事syndrome」「NA」「NARP

NARP症候群」

  [★] 神経性薄弱運動失調網膜色素変性症


神経性薄弱運動失調網膜色素変性症」

  [★]

neuropathy,ataxia and retinitis pigmentosa, NARP
ニューロパチー・運動失調症・網膜色素変性症クイーンズスクエア病 Queens square diseaseNARP syndrome NARP症候群



syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」


NA」

  [★]


NARP」

  [★] ニューロパチー・運動失調症・網膜色素変性症 neuropathy,ataxia and retinitis pigmentosa




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡