Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene-Reference-Cited by-同舟云学术

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Published:2013-05-29 Issue:2 Volume:22 Page:184-191
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Uusimaa Johanna,Evans Julie,Smith Conrad,Butterworth Anna,Craig Kate,Ashley Neil,Liao Chunyan,Carver Janet,Diot Alan,Macleod Lorna,Hargreaves Iain,Al-Hussaini Abdulrahman,Faqeih Eissa,Asery Ali,Al Balwi Mohammed,Eyaid Wafaa,Al-Sunaid Areej,Kelly Deirdre,van Mourik Indra,Ball Sarah,Jarvis Joanna,Mulay Arundhati,Hadzic Nedim,Samyn Marianne,Baker Alastair,Rahman Shamima,Stewart Helen,Morris Andrew AM,Seller Anneke,Fratter Carl,Taylor Robert W,Poulton Joanna

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013112.pdf

Reference27 articles.

1. Copeland WC : Inherited mitochondrial diseases of DNA replication. Annu Rev Med 2008; 59: 131–146.

2. Spinazzola A, Invernizzi F, Carrara F et al: Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009; 32: 143–158.

3. Viscomi C, Spinazzola A, Maggioni M et al: Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet 2009; 18: 12–26.

4. Spinazzola A, Viscomi C, Fernandez-Vizarra E et al: MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006; 38: 570–575.

5. Karadimas CL, Vu TH, Holve SA et al: Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006; 79: 544–548.

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