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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