Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S

Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S

Immunoglobulin mu-binding protein 2 (IGHMBP2) pathogenic variants lead to a spectrum of disorders characterized by alpha-motor neuron degeneration. We describe a compound heterozygous patient diagnosed with Charcot-Marie-Tooth disease type 2S with variants in IGHMBP2: a pathogenic missense variant a...

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Bibliographic Details
Main Authors: Sandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, Caroline Johnson, Haimeng Bai, Jennifer M. Kwon, D. Walker Hagan, Caitlyn Niccum, Rocky Brighton, Kenneth Hawkins, Romy Aiken, Ahmad Nawaz, Xiufang Guo, James Hickman, Christos M. Polymeropoulos, Gunther Birznieks, Mihael H. Polymeropoulos
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: Oligonucleotides: Therapies and Applications
antisense oligonucleotide
RNA therapeutics
Charcot-Marie-Tooth Disease type 2S
IGHMBP2
genetic rescue
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253125000332
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http://www.sciencedirect.com/science/article/pii/S2162253125000332

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