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Case 48 - Distal Myopathies: GNE Myopathy

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 21-year-old man had for some years complained of diffuse pain and weakness of the legs. His sister was reported to have a severe disorder of the nerves or muscles. Their parents were reportedly not related.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 206 - 208
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Mullen, J, Alrasheed, K, Mozaffar, T. GNE myopathy: history, etiology, and treatment trials. Front Neurol 2022;13:1002310. doi: 10.3389/fneur.2022.1002310. PMID: 36330422; PMCID: PMC9623016.CrossRefGoogle ScholarPubMed
Savarese, M, Sarparanta, J, Vihola, A, et al. Panorama of the distal myopathies. Acta Myol 2020;39(4):245265. doi: 10.36185/2532-1900-028. PMID: 33458580; PMCID: PMC7783427.Google ScholarPubMed
Yoshioka, W, Nishino, I, Noguchi, S. Recent advances in establishing a cure for GNE myopathy. Curr Opin Neurol 2022;35(5):629636. doi: 10.1097/WCO.0000000000001090. Epub 2022 Aug 11. PMID: 35959526.CrossRefGoogle ScholarPubMed

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