ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
[Clinical and genetic features of 5 neonates with centronuclear myopathy caused by
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo study clinical manifestations and gene mutation features of neonates with centronuclear myopathy.
methodsA 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.
resultsAll 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.
conclusionsCentronuclear myopathy caused by
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