Article
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.
Clinical genetics - 1 Apr 2018
Zaki M S, Issa M Y, Elbendary H M, El-Karaksy H, Hosny H, Ghobrial C, El Safty A, El-Hennawy A, Oraby A, Selim L, Abdel-Hamid M S
Abstract excerpt
Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). To date, only 14 families from various ethnic groups have been reported. Here, we describe 10 patients from 7 unrelated Egyptian families with HMDPC. Markedly elevated blood Mn levels, the characteristic basal ganglia hyperintensity on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.