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).

本数据集收录了一例12月龄女性患儿病例报告中引用的参考文献。该患儿因肌张力低下与肌无力被转诊至儿科神经肌肉门诊进行评估，最终在NFU1基因（NM_001002755.2）中检出2处意义未明变异：NM_001002755.2 c.398T>C、p.Leu133Pro 及 NM_001002755.2 c.299C>G、p.Ala100Gly。包括脑脊液（CSF）代谢组学在内的生化检测，确诊其患有NFU1相关多发性线粒体功能障碍综合征（1型）。