Mitochondrial disorders: clinical and genetic features.

doi:10.1146/annurev.med.50.1.111

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Article

Mitochondrial disorders: clinical and genetic features.

Annual review of medicine - 1 Jan 1999

Simon D K, Johns D R

Abstract excerpt

Virtually all cells in humans depend on mitochondrial oxidative phosphorylation to generate energy, accounting for the remarkable diversity of clinical disorders associated with mitochondrial DNA mutations. However, certain tissues are particularly susceptible to mitochondrial dysfunction, resulting in recognizable clinical syndromes. Mitochondrial DNA mutations have been linked to seizures, strokes, optic...

Topics

Aging
Cardiomyopathies
Cerebrovascular Disorders
DNA, Mitochondrial
Diabetes Mellitus
Genetic Counseling
Genetic Techniques
Hearing Loss, Sensorineural
Humans
Mitochondria
Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Mutation
Neurodegenerative Diseases
Optic Atrophies, Hereditary
Oxidative Phosphorylation
Parkinson Disease
Seizures

Source

Open in PubMed

Identifiers

PMID: 10073267
DOI: 10.1146/annurev.med.50.1.111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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