Heteroplasmy of the A3243G transition of mitochondrial tRNALeu(UUR) in a MELAS case and in a 25-week-old miscarried fetus

被引：10

作者：

Cardaioli, E

Fabrizi, GM

Grieco, GS

Dotti, MT

Federico, A

机构：

[1] Univ Siena, Inst Neurol Sci, Res Ctr Neurohandicap, I-53100 Siena, Italy

[2] Sch Med, Inst Neurol Sci, I-53100 Siena, Italy

来源：

JOURNAL OF NEUROLOGY | 2000年 / 247卷 / 11期

关键词：

D O I：

10.1007/s004150070080

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：885 / 887

页数：3

共 27 条

[21] The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2
Sasarman, Florin
Antonicka, Hana
Shoubridge, Eric A.
HUMAN MOLECULAR GENETICS, 2008, 17 (23) : 3697 - 3707
[22] Heteroplasmy Level of the Mitochondrial tRNA~(Leu(UUR)) A3243G Mutation in a Chinese Family Is Positively Associated with Earlier Age-of-onset and Increasing Severity of Diabetes
Shi Zhang
Chinese Medical Sciences Journal, 2009, 24 (01) : 20 - 25
[23] Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNALeu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes
Li, Ronghua
Guan, Min-Xin
MOLECULAR AND CELLULAR BIOLOGY, 2010, 30 (09) : 2147 - 2154
[24] Mitochondrial encephalomyopathy lactic acidosisand stroke-like episodes (melas) with the A3243G mutation of the tRNA Leu(uur) gene of mtDNA in native American haplogroup B2
Delgado-Sanchez, R.
Zarate-Moysen, A.
Monsalvo-Reyes, A.
Herrero, M. D.
Ruiz-Pesini, E.
Lopez-Perez, M.
Montoya, J.
Montiel-Sosa, J. F.
REVISTA DE NEUROLOGIA, 2007, 44 (01) : 18 - 22
[25] Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNALeu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes (vol 30, pg 2147, 2010)
Li, Ronghua
Guan, Min-Xin
MOLECULAR AND CELLULAR BIOLOGY, 2017, 37 (18)
[26] Expanding the clinical spectrum of myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) episode: A case with A3243G mitochondrial DNA mutation presenting as MELAS and congenital melanocytic naevi overlap
Liu, Fuchen
Zhang, Dong
Yan, Chuanzhu
NEUROLOGY INDIA, 2016, 64 (02) : 336 - U208
[27] WIDESPREAD TISSUE DISTRIBUTION AND HIGH PERCENTAGE OF AN A-TO-G TRANSITION AT NT3243 OF MITOCHONDRIAL TRNALEU(UUR) GENE ASSOCIATED WITH CLINICO-PATHOLOGICALLY DEFINED LEIGHS DISEASE - A FINAL COMMON OUTCOME FOR SEVERE DEFECTS IN OXPHOS GENES
KOGA, Y
MATSUISHI, T
YOSHINO, M
KATO, H
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1963 - 1963

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