Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
about
Central nervous system manifestations of mitochondrial disorders.Transfer RNA and human diseaseDe novo mtDNA point mutations are common and have a low recurrence risk.Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Human mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies.Normal mitochondrial respiratory function is essential for spatial remote memory in miceA diagnostic algorithm for metabolic myopathiesGenetics of mitochondrial dysfunction and infertility.A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
P2860
Q31058031-A75528E6-5BE8-4AD0-BCA4-C95F24463600Q33703946-939F51E3-5533-4621-8248-1A1C63F09DDEQ33886230-55FB0F46-C340-4F9F-9B9C-425657E4CDBCQ34346045-C082B9D9-420B-4BE7-882A-3E513E1F9CB5Q37013006-9C189B64-C5B0-4901-AD12-88B8E1A1C2D4Q37121433-C0C4DADC-9133-4BB1-B581-2840B2316655Q37738321-F4A0047A-884E-4174-BBE9-03BDF628EFCEQ38982444-9F14FA04-A12A-4EBF-BD54-DE0960448306Q42500837-9D41650A-5804-40A5-851C-BB8558B3ED61Q48201010-1C80B3B1-9B46-4587-AB60-93ECC42A3EECQ50348901-03821F2D-2C98-44D3-84D2-3216E21E711D
P2860
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
description
2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@ast
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@en
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@nl
type
label
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@ast
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@en
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@nl
prefLabel
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@ast
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@en
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@nl
P2093
P50
P1433
P1476
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
@en
P2093
Alessandra Tessa
Filippo M Santorelli
Roberto Cotrufo
Simone Sampaolo
P304
P356
10.1001/ARCHNEUR.61.2.269
P407
P577
2004-02-01T00:00:00Z