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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

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@article{10352a7b42364543abf04a3423b10230,
title = "Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome",
abstract = "This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome.",
keywords = "Blotting, Western, Child, Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Electron Transport, Electron Transport Complex I, Female, Fibroblasts, Genetic Complementation Test, Genome-Wide Association Study, Homozygote, Humans, Leigh Disease, Mitochondria, Mitochondrial Proteins, Muscles, Oligonucleotide Array Sequence Analysis",
author = "Elsebet Ostergaard and Rodenburg, {Richard J} and {van den Brand}, Mari{\"e}l and Thomsen, {Lise Lykke} and Morten Duno and Mustafa Batbayli and Flemming Wibrand and Leo Nijtmans",
year = "2011",
doi = "10.1136/jmg.2011.088856",
language = "English",
volume = "48",
pages = "737--40",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "B M J Group",
number = "11",

}

RIS

TY - JOUR

T1 - Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

AU - Ostergaard, Elsebet

AU - Rodenburg, Richard J

AU - van den Brand, Mariël

AU - Thomsen, Lise Lykke

AU - Duno, Morten

AU - Batbayli, Mustafa

AU - Wibrand, Flemming

AU - Nijtmans, Leo

PY - 2011

Y1 - 2011

N2 - This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome.

AB - This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome.

KW - Blotting, Western

KW - Child

KW - Codon, Nonsense

KW - Consanguinity

KW - DNA Mutational Analysis

KW - Electron Transport

KW - Electron Transport Complex I

KW - Female

KW - Fibroblasts

KW - Genetic Complementation Test

KW - Genome-Wide Association Study

KW - Homozygote

KW - Humans

KW - Leigh Disease

KW - Mitochondria

KW - Mitochondrial Proteins

KW - Muscles

KW - Oligonucleotide Array Sequence Analysis

U2 - 10.1136/jmg.2011.088856

DO - 10.1136/jmg.2011.088856

M3 - Journal article

VL - 48

SP - 737

EP - 740

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 11

ER -

ID: 33278203