A 12-month-old with hypotonia and developmental delays

This data shows the references cited in the case report for the diagnosis of a 12-month-old girl who was referred to the pediatric neuromuscular clinic for evaluation of hypotonia and weakness and ultimately found to have 2 variants of uncertain significance in the NFU1 gene (NM _001002755.2 c.398T>C; p.Leu133Pro and NM _001002755.2 c.299C>G; p.Ala100Gly). Biochemical testing including CSF metabolomics confirmed her diagnosis of NFU1-related multiple mitochondrial dysfunctions syndrome (type 1).Â

本数据集收录了一则病例报告中引用的参考文献，该病例为一名12月龄女童，因肌张力低下与肌无力就诊于儿科神经肌肉门诊接受评估，最终在NFU1基因中检出2个意义未明变异：NM_001002755.2 c.398T>C；p.Leu133Pro 与 NM_001002755.2 c.299C>G；p.Ala100Gly。后续包括脑脊液代谢组学在内的生化检测确认其诊断为NFU1相关多发性线粒体功能障碍综合征1型。