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

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 diagnoses were...

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Detalles Bibliográficos
Autores principales: Wang, Qi, Yu, Meng, Zhang, Wei, Gang, Qiang, Xie, Zhiying, Xu, Jin, Zhou, Chao, Wang, Depeng, Meng, Lingchao, Lv, He, Jia, Zhirong, Deng, Jianwen, Yuan, Yun, Wang, Zhaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9639637/
https://www.ncbi.nlm.nih.gov/pubmed/36151849
http://dx.doi.org/10.1002/acn3.51666

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