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[Analysis of a child with congenital muscular dystrophy due to a novel variant of the LMNA gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2021

Tang Wenting, Wu Ruohao, Qiu Kunyin, Zhang Xu, He Zhanwen

Abstract excerpt

OBJECTIVE: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity. METHODS: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of muscle enzymes for more than half a year. Congenital myopathy was suspected. Following muscle biopsy, HE staining, immunostaining and electron microscopy were conducted to...

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PMID: 34487530
DOI: 10.3760/cma.j.cn511374-20201012-00711

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