Case report
Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy
Valentina Barone
A. Borghi
Alessandro Vaisfeld
Giovanni Corona
D. Galatolo
Alessandra Tessa
F. Santorelli
S. Stagni
Luigi Simonetti
A. Zini
Medicine
TL;DR
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.