Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load

August 2006 in “ Molecular genetics and metabolism ”

Gregory M. Enns, Renkui Bai, Anita Beck, Lee‐Jun C. Wong

mitochondrial DNA T8993G mutation Leigh syndrome neurogenic muscle weakness ataxia retinitis pigmentosa NARP hair bulbs genotype-phenotype correlations mtDNA hair bulb analysis

Studysummary This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

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