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Alessio Rocco Sangiorgio

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Jul 2026

A novel CHMP2B variant of uncertain significance in a patient with apathy, hyperorality, and mild language impairment.

A 62-year-old woman presenting with apathy, hyperorality, and language impairment, harbouring a novel heterozygous c.440 A > G CHMP2B variant of uncertain significance, causing D147G substitution is reported, raising the possibility that this variant may be relevant in the context of an FTD-like phenotype.

Alessio Rocco Sangiorgio, Carlo Manco, Delia Righi et al. · 0 citations