Article
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
Journal of medical genetics - 1 Apr 2022
Liu Zhimei, Zhang Li, Ren Changhong, Xu Manting, Li Shufang, Ban Rui, Wu Ye, Chen Ling, Sun Suzhen, Elstner Matthias, Shimura Masaru, Ogawa-Tominaga Minako, Murayama Kei, Shi Tieliu, Prokisch Holger, Fang Fang
Abstract excerpt
BACKGROUND: Progressive cavitating leukoencephalopathy (PCL) is thought to result from mutations in nuclear genes affecting mitochondrial function and energy metabolism. To date, mutations in two subunits of complex I, NDUFS1 and NDUFV1, have been reported to be related to PCL. METHODS: Patients underwent clinical examinations, brain MRI, skin biopsy and muscle biopsy. Whole-genome or whole-exome sequencing was...
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