Article
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
Orphanet journal of rare diseases - 3 Aug 2020
He Ruxuan, Mo Ruo, Shen Ming, Kang Lulu, Song Jinqing, Liu Yi, Chen Zhehui, Zhang Hongwu, Yao Hongxin, Liu Yupeng, Zhang Yao, Dong Hui, Jin Ying, Li Mengqiu, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Li Xiyuan, Zhang Huifeng, Huang Min, Zhang Chunyan, Jiang Yuwu, Liang Desheng, Tian Yaping, Yang Yanling
Abstract excerpt
BACKGROUND: Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients, its correlation with phenotype has not been delineated. Here we aim to investigate the factors affecting variable phenotypes and outcomes associated with the MMACHC c.609G > A homologous...
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