Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene-Reference-Cited by-同舟云学术

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

Published:2001-01 Issue:4 Volume:22 Page:207-223
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Tranebjærg Lisbeth,Jensen Peter K.A.,Van Ghelue Marijke,Vnencak-Jones Cindy L.,Sund Staale,Elgjo Kjell,Jakobsen Johannes,Lindal Sigurd,Warburg Mette,Fuglsang-Frederiksen Anders,Skullerud Kari

Publisher

Swets & Zeitlinger Publishers

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1076/opge.22.4.207.2220

Reference27 articles.

1. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

2. Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome

3. The syndrome of opticoacoustic nerve atrophy with dementia

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