The p.D207V mutation is correlated with a less severe form of GNE myopathy

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.

 

Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients. Sun H, Zheng F, Yu J et al. Neurol Genet. 2024 Nov 11;10(6):e200203.

 

Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan. Yoshioka W, Nakamura H, Oba M et al. J Neurol. 2024 Jul;271(7):4453-4461.