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The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
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 char...
Autores principales: | Wang, Ning, Han, Xu, Hao, Shengpu, Han, Jingzhe, Zhou, Xiaomeng, Sun, Shuyan, Tang, Jin, Lu, Yanpeng, Wu, Hongran, Ma, Shaojuan, Song, Xueqin, Ji, Guang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623978/ https://www.ncbi.nlm.nih.gov/pubmed/36319958 http://dx.doi.org/10.1186/s12883-022-02905-w |
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