Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease-Reference-Cited by-同舟云学术

Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

Published:2009-04-07 Issue:5 Volume:149A Page:861-867
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Van Hove Johan L.K.,Cunningham Vicki,Rice Cathlin,Ringel Steven P.,Zhang Qing,Chou Ping-Chieh,Truong Cavatina K.,Wong Lee-Jun C.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32731/fullpdf

Reference42 articles.

1. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO);Agostino;Neurology,2003

2. OPAI mutations induce mitochondrial DNA instability and optic atrophy “plus” phenotypes;Amati-Bonneau;Brain,2008

3. Major depression in 1998: Are we providing optimal therapy?;Angst;J Clin Psychiatry,1999

4. The V368I mutation in Twinkle does not segregate with AdPEO;Arenas;Ann Neurol,2003

5. Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease;Bai;J Mol Diagnosis,2005

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