Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

doi:10.1093/brain/awm114

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Article

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Brain : a journal of neurology - 1 Jul 2007

Malfatti Edoardo, Bugiani Marianna, Invernizzi Federica, de Souza Carolina Fischinger-Moura, Farina Laura, Carrara Franco, Lamantea Eleonora, Antozzi Carlo, Confalonieri Paolo, Sanseverino Maria Teresa, Giugliani Roberto, Uziel Graziella, Zeviani Massimo

Abstract excerpt

Isolated Complex I (CI) deficiency, the most frequent cause of mitochondrial disease, is a clinically and genetically heterogeneous condition. Complex I is a giant multiheteromeric enzyme composed of seven ND subunits encoded by mitochondrial DNA (mtDNA) genes, and at least 38 subunits encoded by nuclear genes. To establish the contribution to human mitochondrial encephalopathy of ND versus nuclear gene...

Topics

Adolescent
Adult
Animals
Base Sequence
Child
DNA Mutational Analysis
DNA, Mitochondrial
Electron Transport Complex I
Electrophoresis, Gel, Two-Dimensional

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Humans

Infant

Magnetic Resonance Imaging

Male

Mitochondrial Encephalomyopathies

Mutation

NADH Dehydrogenase

Pedigree

Source

Open in PubMed

Identifiers

PMID: 17535832
DOI: 10.1093/brain/awm114

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