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BMC Neurology
Published in: BMC Neurology 1/2022

Open Access 01-12-2022 | Polymyositis | Research

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

Authors: Ning Wang, Xu Han, Shengpu Hao, Jingzhe Han, Xiaomeng Zhou, Shuyan Sun, Jin Tang, Yanpeng Lu, Hongran Wu, Shaojuan Ma, Xueqin Song, Guang Ji

Published in: BMC Neurology | Issue 1/2022

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Abstract

Background

Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.

Methods

We reviewed the clinical and pathological data as well as the molecular characteristics of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and pathogenic variants in DYSF genes.

Results

Among 26 patients with dysferlinopathy, 18 patients (69.2%) presented as Limb-girdle Muscular Dystrophy Type R2 (LGMD R2), 4 (15.4%) had a phenotype of Miyoshi myopathy (MM), and 4 (15.4%) presented as asymptomatic hyperCKemia. Fifteen patients (57.7%) were originally misdiagnosed as inflammatory myopathy or other diseases. Fifteen novel variants were identified among the 40 variant sites identified in this cohort.

Conclusion

Dysferlinopathy is a clinically and genetically heterogeneous group of disorders with various phenotypes, a high proportion of novel variants, and a high rate of misdiagnosis before immunohistochemistry staining and genetic analysis.
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Metadata
Title
The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
Authors
Ning Wang
Xu Han
Shengpu Hao
Jingzhe Han
Xiaomeng Zhou
Shuyan Sun
Jin Tang
Yanpeng Lu
Hongran Wu
Shaojuan Ma
Xueqin Song
Guang Ji
Publication date
01-12-2022
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2022
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-022-02905-w

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