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Article

Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.

Journal of molecular neuroscience : MN - 1 Jun 2017

Jin Danqun, Yu Tian, Zhang Le, Wang Tao, Hu Jun, Wang Yajian, Yang Xiu-An

Abstract excerpt

Multiple mitochondrial dysfunctions syndrome (MMDS) is an autosomal recessive disorder of systemic energy metabolism. This study is to present the diagnosis of two MMDS Chinese sufferers. Physical and auxiliary examination was performed. Next generation sequencing (NGS) was conducted to identify candidate causal genes and Sanger sequencing was adopted to validate the variants detected. Fluorescence quantitative...

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PMID: 28470589
DOI: 10.1007/s12031-017-0927-8

Genes

NFU1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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