Pathophysiologic Mechanisms in Neuromuscular Disease

David Walk

doi:10.1007/978-3-031-70459-8_2

Pathophysiologic Mechanisms in Neuromuscular Disease

David Walk

Neurology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Neuromuscular disorders can be classified according to the cellular functions affected, such as energy utilization, function of membrane channels and synaptic transmission, integrity of structural proteins, or proteasome efficiency and autophagy. Each of these functions can be disrupted by different categories of disease. In addition, our growing understanding of the genetic mechanisms of disease goes well beyond mutations leading to changes in function of a single protein product but now includes numerous mechanisms including genetic and sporadic disorders or RNA splicing and translation as well as epigenetic modifications that influence gene expression.

Original language	English (US)
Title of host publication	Clinical Handbook of Neuromuscular Medicine, Second Edition
Publisher	Springer Nature
Pages	11-17
Number of pages	7
ISBN (Electronic)	9783031704598
ISBN (Print)	9783031704581
DOIs	https://doi.org/10.1007/978-3-031-70459-8_2
State	Published - Jan 1 2025

Bibliographical note

Publisher Copyright:
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2018, 2024.

Keywords

Autophagy
Epigenetics
Proteasome
RNA-binding protein

Publisher link

10.1007/978-3-031-70459-8_2

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KW - Epigenetics

KW - Proteasome

KW - RNA-binding protein

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ER -

Pathophysiologic Mechanisms in Neuromuscular Disease

Abstract

Bibliographical note

Keywords

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