Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts

ConclusionOur case expands on this genetic variation and provides new evidence for the clinical diagnosis ofMLC1-related MLC.

Source: Molecular Genetics & Genomic Medicine - February 10, 2024 Category: Genetics & Stem Cells Authors: Jian Zha, Yong Chen, Fangfang Cao, Yuxin Xu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Huaping Wu, Jianmin Zhong Tags: CLINICAL REPORT Source Type: research