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CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome

Human Mutation

Aug 26, 2019

Luna LaeraAnna De Grassi

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Abstract

Leigh syndrome, or subacute necrotizing encephalomyelopathy, is one of the most severe pediatric disorders of the mitochondrial energy metabolism. By performing whole-exome sequencing in a girl affected by Leigh syndrome and her parents, we identified two heterozygous missense variants ...read more

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Acetyl Coenzyme A
Brain
Carnitine O-Acetyltransferase
Energy Metabolism
Fibroblasts
Leigh Disease
Mitochondria
Nerve Degeneration
Recombinant Proteins
Butyryl-CoA dehydrogenase
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CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome

Human Mutation

Aug 26, 2019

Luna LaeraAnna De Grassi

PMID: 31448845

DOI: 10.1002/humu.23901

Abstract

Leigh syndrome, or subacute necrotizing encephalomyelopathy, is one of the most severe pediatric disorders of the mitochondrial energy metabolism. By performing whole-exome sequencing in a girl affected by Leigh syndrome and her parents, we identified two heterozygous missense variants ...read more

Mentioned in this Paper

Acetyl Coenzyme A
Brain
Carnitine O-Acetyltransferase
Energy Metabolism
Fibroblasts
Paper Details
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