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Article

Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022

Wang Qi, Yu Meng, Xie Zhiying, Liu Jing, Wang Qingqing, Lv He, Zhang Wei, Yuan Yun, Wang Zhaoxia

Abstract excerpt

Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes,...

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PMID: 34595679
DOI: 10.1007/s10072-021-05627-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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