目的 总结分析新生儿中央核肌病的临床表现及基因突变特点。 方法 回顾性分析2020年1月—2024年8月在浙江大学医学院附属儿童医院新生儿重症监护室住院并明确诊断的5例中央核肌病新生儿的临床资料。包括性别、胎龄、出生体重、Apgar评分、临床表现、肌酸激酶、肌电图、基因检测结果及患儿结局等。 结果 5例男性患儿均存在生后窒息复苏史，临床表现为肌张力减退、肌无力、呼吸衰竭，其中2例患儿存在吞咽功能障碍。肌酸激酶检测3例正常，2例轻度升高。3例患儿进行了肌电图检查，其中2例提示肌源性损害。5例患儿均通过基因检测明确为MTM1基因突变，包括2例无义突变、3例错义突变，其中1例变异位点既往未见报道。4例突变遗传自母亲，1例为新发突变。5例患儿治疗后病情无改善，撤机失败，最终放弃治疗后死亡。 结论 MTM1基因突变所致的中央核肌病临床表型严重，预后不良。出生后存在肌张力减退、肌无力的患儿应考虑该疾病，并尽早完善基因检测以明确诊断。

Objective To study clinical manifestations and gene mutation features of neonates with centronuclear myopathy. Methods A retrospective analysis was conducted on the medical data of 5 neonates with centronuclear myopathy diagnosed in the Neonatal Intensive Care Unit of Children's Hospital, Zhejiang University School of Medicine from January 2020 to August 2024. The data included gender, gestational age, birth weight, Apgar score, clinical manifestations, creatine kinase level, electromyography, genetic testing results and the outcomes of the infants. Results All 5 male neonates had a history of postpartum asphyxia and resuscitation. They all presented with hypotonia, myasthenia, and respiratory failure; two neonates also had swallowing dysfunction. Of the five neonates, three had normal creatine kinase levels, while two had slightly elevated levels. Electromyography was performed for three neonates, among whom two had myogenic damage. MTM1 gene mutations were identified by genetic testing in all five neonates, including two nonsense mutations and three missense mutations, among which one variant had not been previously reported. Four mutations were inherited from the mother, and the other one was a de novo mutation. The five neonates showed no clinical improvement following treatment, failed weaning from mechanical ventilation, and ultimately died after withdrawal of life-sustaining therapy. Conclusions Centronuclear myopathy caused by MTM1 gene mutation often has a severe phenotype and a poor prognosis, and it should be considered for neonates with hypotonia and myasthenia after birth. Genetic testing should be performed as soon as possible.