Is leber 's Hereditary Optic Neuropathy Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C?
Compound mtDNA mutations of m.3635G > A and m.14502T > C presented with low penetration, and the patients with these compound mutations exhibited mild visual impairment. The biological information analysis suggested that m.14502T > C might play a protective role in LHON associated with m.3635G > A. The haplogroup analysis indicated that the mtDNA haplogroup might be an important factor affecting the expression of LHON associated with m.3635G > A and/or m.14502T > C.
Highest compliance emerged where the clinical approach for all patients with uninvestigated dyspepsia was symptomatic therapy at first presentation followed by a different attitude at second presentation, setting a higher cut-off age than in the guideline (which in our case proved, on mathematical calculation, to be 55 years).