EPISODE · Jul 13, 2022 · 3 MIN
Shortcast: Clinical spectrum of early onset “Mediterranean” MNGIE
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
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
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Shortcast: Clinical spectrum of early onset “Mediterranean” MNGIE
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