Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease

Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease

Abstract Rippling Muscle Disease (RMD) is a rare skeletal myopathy characterized by abnormal muscular excitability manifesting with wave-like muscle contractions and percussion-induced muscle mounding. Hereditary RMD is associated with caveolin-3 or cavin-1 mutations. Recently, we identified cavin 4...

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Main Authors: Samir R. Nath, Aneesha Dasgupta, Divyanshu Dubey, Eileen Kokesh, Grayson Beecher, Numrah Fadra, Teerin Liewluck, Sean Pittock, Jason D. Doles, William Litchy, Margherita Milone
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Acta Neuropathologica Communications
Subjects:
Immune mediated rippling muscle disease
Myopathy
Transcriptomics
Interleukin-6
Interferon
Online Access:https://doi.org/10.1186/s40478-025-01926-z
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https://doi.org/10.1186/s40478-025-01926-z

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