Article ; Online: Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.
2019 Volume 68, Issue 7, Page(s) 312–314
Title translation | Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene. |
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MeSH term(s) | Blepharoptosis/genetics ; DNA, Mitochondrial/genetics ; Disease Progression ; Electron Transport Complex I/genetics ; Electron Transport Complex I/physiology ; Female ; Fetal Growth Retardation/genetics ; Gastrointestinal Diseases/genetics ; Genetic Heterogeneity ; Humans ; Infant ; Intellectual Disability/genetics ; Leigh Disease/genetics ; Male ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/physiology ; Mutation, Missense ; Ophthalmoplegia/genetics ; Phenotype ; Point Mutation ; Wolff-Parkinson-White Syndrome/genetics |
Chemical Substances | DNA, Mitochondrial ; Mitochondrial Proteins ; MT-ND5 protein, human (EC 1.6.99.3) ; Electron Transport Complex I (EC 7.1.1.2) |
Language | Spanish |
Publishing date | 2019-03-21 |
Publishing country | Spain |
Document type | Case Reports ; Letter |
ZDB-ID | 1468278-3 |
ISSN | 1576-6578 ; 0210-0010 |
ISSN (online) | 1576-6578 |
ISSN | 0210-0010 |
DOI | 10.33588/rn.6807.2018393 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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