Clinical/scientific notes

Neurology

Volumn 79, Issue 14, 2012, Pages 1515-1517

  Sitarz, Kamil S ^a   Almind, Gitte J ^c   Horvath, Rita ^a   Czermin, Birgit ^e   Groønskov, Karen ^c   Pyle, Angela ^a   Taylor, Robert W ^b   Larsen, Michael ^f,g   Chinnery, Patrick F ^a   Yu Wai Man, Patrick ^a,d  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

^e Medical Genetic Center   (Germany)

^f GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CELL PROLIFERATION; CONTROLLED STUDY; DNA CONTENT; GENE; GENE DOSAGE; GENE MUTATION; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; OPA1 GENE; PRIORITY JOURNAL; COHORT ANALYSIS; COPY NUMBER VARIATION; FEMALE; GENETICS; GERMANY; MALE; METABOLISM; MUTATION; NETHERLANDS; PATHOLOGY; UNITED KINGDOM; VISUAL ACUITY;

CELL PROLIFERATION; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; DNA, MITOCHONDRIAL; ENGLAND; FEMALE; GERMANY; GTP PHOSPHOHYDROLASES; HUMANS; LEUKOCYTES; MALE; MUTATION; NETHERLANDS; OPTIC ATROPHY, AUTOSOMAL DOMINANT; VISUAL ACUITY;

EID: 84867542845     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31826d5f60     Document Type: Article

References (7)

1. Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multisystem neurological disease is common in patients with OPA1 mutations. Brain 2010;133:771-786.
2. Amati-Bonneau P, Valentino ML, Reynier P, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Brain 2008;131:338-351.
3. Hudson G, Amati-Bonneau P, Blakely EL, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain 2008;131:329-337.
4. Yu-Wai-Man P, Sitarz KS, Samuels DC, et al. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Hum Molec Genet 2010; 19:3043-3052.
5. Pyle A, Burn DJ, Gordon C, et al. Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis. Intens Care Med 2010;36:956-962.
6. Sitarz KS, Yu-Wai-Man P, Pyle A, et al. MFN2 mutations cause compensatory mitochondrial DNA proliferation. Brain 2012;135:e219.
7. Kim JY, Hwang JM, Ko HS, et al. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 2005;64:966-972.