A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease-Reference-Cited by-同舟云学术

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A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Published:2017-02-10 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Soini Heidi K.,Väisänen Antti,Kärppä Mikko,Hinttala Reetta,Kytövuori Laura,Moilanen Jukka S.,Uusimaa Johanna,Majamaa Kari

Funder

Suomen Akatemia

Päivikki ja Sakari Sohlbergin Säätiö

The Alma and K.A. Snellman Foundation

Sigrid Juséliuksen Säätiö

The Finnish graduate School for Population Genetics

Oulun Yliopisto

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0377-8.pdf

Reference42 articles.

1. Chinnery PF, Elliott HR, Hudson G, Samuels DC, Relton CL. Epigenetics, epidemiology and mitochondrial DNA diseases. Int J Epidemiol. 2012;41(1):177–87.

2. Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, Mcfarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77(5):753–9.

3. Ylikallio E, Suomalainen A. Mechanisms of mitochondrial diseases. Ann Med. 2012;44(1):41–59.

4. Breen MS, Kondrashov FA. Mitochondrial pathogenic mutations are population-specific. Biol Direct. 2010;5:68.

5. Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, Dai X, Zhou H, Zhao F, Ji Y, Mo JQ, Qu J, Guan MX. Leber’s hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese families. Invest Ophthalmol Vis Sci. 2012;53(8):4586–94.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pediatric leukemia could be driven predominantly by non-synonymous variants in mitochondrial complex V in Mizo population from Northeast India;Mitochondrial DNA Part A;2020-07-01

2. Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype;BMC Neurology;2018-09-20

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