Articles with "vacuolar myopathies" as a keyword



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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

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Published in 2023 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2023.1152738

Abstract: 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,… read more here.

Keywords: rvms; rimmed vacuolar; muscle; muscle imaging ... See more keywords