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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

Internet

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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