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Molecular genetics and therapeutic development for GNE myopathy

Wakako Yoshioka1,2, Satoru Noguchi3,4, Ichizo Nishino3,4

  • 1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. wyoshioka@ncnp.go.jp.

Journal of Human Genetics
|September 5, 2025
PubMed
Summary

Genetic diagnostics for GNE myopathy are advancing, enabling detection of complex variants. Accurate genetic testing is crucial for diagnosing GNE myopathy and accessing new therapies.

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