A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights

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X-linked centronuclear myopathy (XLCNM) is a rare neuromuscular disorder that presents significant diagnostic challenges in neonates.
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A male infant diagnosed with XLCNM was born at 36 weeks gestation, weighing 2.1 kg, and required immediate resuscitation due to severe asphyxia.
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Genetic testing confirmed the diagnosis of XLCNM through the identification of a rare variant in the MTM1 gene.
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Despite intensive care efforts, including mechanical ventilation and anti-infection treatments, the infant's condition did not improve.
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The case highlights the importance of early recognition of XLCNM and the role of genetic counseling for affected families.

Frontiers In Pediatrics

by Huan Liao, Mengyuan Jiang, Xinyan Zhong, Xiaohua Luo, Hongsheng Qiu, Hua Pan, Jinghui Gan, Shibing Zhong
July 14, 2026

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