Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
about
Mitochondrial epilepsy in pediatric and adult patients.The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
P2860
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Variable phenotypes in a famil ...... mutation in mitochondrial DNA.
@ast
Variable phenotypes in a famil ...... mutation in mitochondrial DNA.
@en
type
label
Variable phenotypes in a famil ...... mutation in mitochondrial DNA.
@ast
Variable phenotypes in a famil ...... mutation in mitochondrial DNA.
@en
prefLabel
Variable phenotypes in a famil ...... mutation in mitochondrial DNA.
@ast
Variable phenotypes in a famil ...... mutation in mitochondrial DNA.
@en
P2093
P2860
P1476
Variable phenotypes in a famil ...... mutation in mitochondrial DNA
@en
P2093
Shiro Matsubara
Yoko Sunami
Yu-ichi Goto
P2860
P2888
P304
P356
10.1007/S10072-011-0719-9
P577
2011-08-24T00:00:00Z