A retrospective Chinese study of 83 patients with GNE myopathy compared the evolution of 40 carriers of the p.D207V mutation in the gene in question with that of 43 carriers of another mutation:
- the age of onset of the disease was 27 years for the former versus 24 years for the latter;
- carriers of the p.D207V mutation reached the age of wheelchair dependency at 50, five years later than the others;
- similarly, activities of daily living (Barthel index) were more impaired in p.D207V non-carriers, with no significant functional difference between men and women.
These results confirm the lower phenotypic severity of p.D207V mutation carriers already observed in the Japanese cohorts.