A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformati...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2013
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/22599
- Acceso en línea:
- https://doi.org/10.1016/j.mito.2013.03.010
https://repository.urosario.edu.co/handle/10336/22599
- Palabra clave:
- Flavoprotein
Messenger rna
Reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone)
Reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone) flavoprotein 1
Unclassified drug
Article
Bioinformatics
Blood analysis
Cerebrospinal fluid analysis
Child
Clinical article
Clinical feature
Diffuse leukodystrophy
Disorders of mitochondrial functions
Female
Gene deletion
Heterozygosity
Human
Human tissue
Leukodystrophy
Male
Missense mutation
Nuclear magnetic resonance imaging
Nucleotide sequence
Preschool child
Priority journal
Rna synthesis
Skin biopsy
Stop codon
Ci
Complex i
Diffuse leukodystrophy
Genetics
Md
Mitochondrial disease
Mitochondrial respiratory chain disorders
Ndufv1 mutations
Nmd
Nonsense-mediated decay
Amino acid sequence
Energy metabolism
Heterozygote
Humans
Magnetic resonance imaging
Male
Mitochondrial diseases
Molecular sequence data
Nadh dehydrogenase
Diffuse leukodystrophy
Genetics
Mitochondrial disease
Ndufv1 mutations
missense
preschool
Child
Mutation
- Rights
- License
- Abierto (Texto Completo)