Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies

Abstract excerpt

Charcot-Marie-Tooth Disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) are the most common inherited peripheral neuropathies and arise from copy number variation of the Peripheral Myelin Protein 22 gene ( PMP22 ). While secondary axon degeneration has been proposed as a primary driver of pathogenesis, our prior work demonstrated neuromuscular deficits in CMT1A mice in the...

Topics

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• Axons
• Charcot-Marie-Tooth Disease
• Disease Models, Animal
• Motor Neurons
• Mutation
• Myelin Proteins
• Neuromuscular Junction
• Schwann Cells

Identifiers and source

Literature Corpus work

435a660a-e978-5258-a0e3-7eab76791019

DOI

10.1101/2024.05.10.592618