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Neurological Review
January 1998

Mitochondrial Myopathies: Genetic Mechanisms

Author Affiliations

From the Regional Neuromuscular Diseases Unit, King's Neurosciences Centre, London, England.

Arch Neurol. 1998;55(1):17-24. doi:10.1001/archneur.55.1.17

One of the great challenges in molecular biology is to understand the mechanisms by which a particular genetic defect gives rise to the disease or diseases associated with it. Mitochondrial myopathies are no exception. This review emphasizes some of the important mechanisms that can modify the phenotypic expression of the genetic disorders seen in mitochondrial myopathies.