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01-04-2022 | Diseases of the neuromuscular synapses and muscles | Original Article

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

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

Published in: Neurological Sciences | Issue 4/2022

Abstract

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, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients.

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Title: Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients
Authors: Qi Wang
Meng Yu
Zhiying Xie
Jing Liu
Qingqing Wang
He Lv
Wei Zhang
Yun Yuan
Zhaoxia Wang
Publication date: 01-04-2022
Publisher: Springer International Publishing
Keywords: Diseases of the neuromuscular synapses and muscles
Myopathy
Published in: Neurological Sciences / Issue 4/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05627-y

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

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