Abstract

MELAS syndrome is a mitochondrial cytopathy, which is characterized by encefalomiopathy, lactic acidosis and ‘stroke like’ episodes, and it is caused by mutations in the mitochondrial DNA. It constitutes a rare multisystemic progressive disorder, with major influence in the muscular and nervous system. Clinical signs and symptoms appear mainly in childhood and adolescence (typically <40 years old), but can appear at any age.

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