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

Elsebet Ostergaard; Richard J Rodenburg; Mariël van den Brand; Lise Lykke Thomsen; Morten Duno; Mustafa Batbayli; Flemming Wibrand; Leo Nijtmans

doi:10.1136/jmg.2011.088856

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

Elsebet Ostergaard, Richard J Rodenburg, Mariël van den Brand, Lise Lykke Thomsen, Morten Duno, Mustafa Batbayli, Flemming Wibrand, Leo Nijtmans

58 Citations (Scopus)

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.

Original language	English
Journal	Journal of Medical Genetics
Volume	48
Issue number	11
Pages (from-to)	737-40
Number of pages	4
ISSN	1468-6244
DOIs	https://doi.org/10.1136/jmg.2011.088856
Publication status	Published - 2011

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

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10.1136/jmg.2011.088856

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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",

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language = "English",

volume = "48",

pages = "737--40",

journal = "Journal of Medical Genetics",

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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

UR - https://www.scopus.com/pages/publications/81055158015

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DO - 10.1136/jmg.2011.088856

M3 - Journal article

C2 - 21617257

SN - 1468-6244

VL - 48

SP - 737

EP - 740

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 11

ER -

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

Abstract

Keywords

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