Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome
✦ NabkaNews BriefAuto-summarized from multiple outlets · verify with the source
A mitochondrial mutation is associated with Leigh syndrome, a condition characterized by exercise intolerance and developmental delay. The specific mutation, 3697G>A, has been identified in some cases, although it is not clear if this is the only mutation that can cause the condition. Mitochondrial dna mutation screening techniques are being used to enable fast and reliable genetic diagnosis of related disorders.