Page 51 - Biochemistry2 (08PB403)
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Clinical aspects

Mitochondrial encephalomyopathy

• Mutation in mitochondrial genes that encode protein complexes
    of the respiratory chain can cause disease in the brain and
    skeletal muscle, being highly dependent on ATP supply.

• It is prevalent in 16 out of 100,000.
• The condition is manifested as progressive loss of vision in early

    adulthood, epilepsy and muscle weakness.

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