Genetic defects causing mitochondrial respiratory chain disorders and disease.

doi:10.1093/humrep/15.suppl_2.28

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Article

Genetic defects causing mitochondrial respiratory chain disorders and disease.

Human reproduction (Oxford, England) - 1 Jul 2000

Christodoulou J

Abstract excerpt

Genetic mitochondrial defects of the respiratory chain show marked phenotypic variability. Laboratory diagnosis is complicated and includes biochemical screening tests, tissue histopathology, functional enzyme studies, and molecular tests where available. Normal respiratory chain function necessitates the co-ordinated expression of over 100 different gene loci, and the interaction of two genetic systems, the...

Topics

DNA Replication
DNA, Mitochondrial
Electron Transport
Energy Metabolism
Gene Deletion
Gene Duplication
Gene Rearrangement
Genetic Counseling
Genotype
Humans
Mitochondrial Myopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Protein Biosynthesis

Protein Folding

RNA, Ribosomal

RNA, Transfer

Transcription, Genetic

Source

Open in PubMed

Identifiers

PMID: 11041511
DOI: 10.1093/humrep/15.suppl_2.28

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