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

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

IntroductionRimmed 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 w...

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Bibliographic Details
Main Authors: Xiao-jing Wei, Hui Sun, Jing Miao, Ru-qing Qiu, Zong-zhi Jiang, Zhen-wei Ma, Wei Sun, Xue-fan Yu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Neurology
Subjects:
vacuolar myopathy
differential diagnosis
muscle magnetic resonance imaging
autophagy
next generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1152738/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1152738/full

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