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Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature

INTRODUCTION: Rimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding sequences and structural mutations, some of...

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Detalles Bibliográficos
Autores principales: Wei, Xiao-jing, Sun, Hui, Miao, Jing, Qiu, Ru-qing, Jiang, Zong-zhi, Ma, Zhen-wei, Sun, Wei, Yu, Xue-fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175607/
https://www.ncbi.nlm.nih.gov/pubmed/37188302
http://dx.doi.org/10.3389/fneur.2023.1152738