A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy-Reference-Cited by-同舟云学术

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Published:2015-10-05 Issue:1 Volume:15 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Choi Yu-Ri,Hong Young Bin,Jung Sung-Chul,Lee Ja Hyun,Kim Ye Jin,Park Hyung Jun,Lee Jinho,Koo Heasoo,Lee Ji-Su,Jwa Dong Hwan,Jung Namhee,Woo So-Youn,Kim Sang-Beom,Chung Ki Wha,Choi Byung-Ok

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/article/10.1186/s12883-015-0430-1/fulltext.html

Reference18 articles.

1. Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D’Adamo P, Calvo S, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006;38:570–5.

2. Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet. 2006;79:544–8.

3. Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, et al. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord. 2012;22:587–91.

4. Gottesberge AM M z, Massing T, Hansen S. Missing mitochondrial MPV17 gene function induces tissue-specific cell-death pathway in the degenerating inner ear. Cell Tissue Res. 2012;347:343–56.

5. Gottesberge AM M z, Reuter A, Weiher H. Inner ear defect similar to Alport’s syndrome in the glomerulosclerosis mouse model MPV17. Eur Arch Otorhinolaryngol. 1996;253:470–4.

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