Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4‐myopathy

Abstract PLIN4‐myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99 bp repeat expansion in PLIN4, presenting with distal or proximal weakness. Here, we report one family and one sporadic case of adult‐onset PLIN4‐associated limb‐girdle weakness, whose diagno...

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Detalhes bibliográficos

Principais autores:	Qi Wang, Meng Yu, Wei Zhang, Qiang Gang, Zhiying Xie, Jin Xu, Chao Zhou, Depeng Wang, Lingchao Meng, He Lv, Zhirong Jia, Jianwen Deng, Yun Yuan, Zhaoxia Wang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2022-11-01
Colecção:	Annals of Clinical and Translational Neurology
Acesso em linha:	https://doi.org/10.1002/acn3.51666
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