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NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report

BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal, and distal limb muscle involvement. Recent research showed that GGC repeat expansions in the NOTCH2NLC gene were observed in a proportion of OPDM patients,...

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Detalles Bibliográficos
Autores principales:	Ji, Guang, Zhao, Yuan, Zhang, Jian, Dong, Hui, Wu, Hongran, Chen, Xian, Qi, Xiaoming, Tian, Yun, Shen, Lu, Yang, Guofeng, Song, Xueqin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251914/ https://www.ncbi.nlm.nih.gov/pubmed/35788208 http://dx.doi.org/10.1186/s12883-022-02766-3

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