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

59 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Journal of Medical Genetics
Vol/bind	48
Udgave nummer	11
Sider (fra-til)	737-40
Antal sider	4
ISSN	1468-6244
DOI	https://doi.org/10.1136/jmg.2011.088856
Status	Udgivet - 2011

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10.1136/jmg.2011.088856

Citationsformater

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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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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

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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

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