Author

L. Simonetti

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Case report Aug 2026

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy

The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.

Valentina Barone, A. Borghi, Alessandro Vaisfeld et al. · Neurological Sciences · 0 citations