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July 10, 2024

[Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene].

Jin Wang Dan Wang Tingting Li Lingkong Zeng Shi Wang

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Abstract

To explore the clinical and genetic characteristics of two newborns with Central nuclear myopathy (CNM).

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Cite This Study

Wang et al. (2024) studied this question.

synapsesocial.com/papers/68e60bfeb6db64358759f956 https://doi.org/10.3760/cma.j.cn511374-20230606-00345

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Centronuclear myopathy: advances in genetic understanding and potential for future treatmentsreview · 2018
2Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Yearscohort · 2015 · 10 citations
3Clinical, genetic, and histological features of centronuclear myopathy in the Netherlandscohort · 2021 · 15 citations
4Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twinscase_report · 2016 · 3 citations
5[Clinical and genetic features of 5 neonates with centronuclear myopathy caused by 2025

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