Dr Sema Kalkan Uçar returns to the shortcast to present a cohort of 15 patients with MNGIE disease, including 9 with the p.P131L (c.392 C > T), or “Mediterranean” variant.
Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Sema Kalkan Uçar, et al
https://doi.org/10.1002/jmd2.12315
