Expanding the <i>AFG3L2</i> Spectrum
These findings suggest that <i>AFG3L2</i> haploinsufficiency can underlie axonal CMT, expanding the clinical spectrum of <i>AFG3L2</i>-related diseases and emphasizing its potential inclusion in CMT diagnostic panels.
Authors
- S. Previtali
- Christian Laurini (ORCID: https://orcid.org/0009-0008-6707-3104)
- Francesca Maltecca (ORCID: https://orcid.org/0000-0001-8095-8208)
- Yuri Falzone (ORCID: https://orcid.org/0000-0003-3233-1907)
- Silvia Calzavara
- Ubaldo Del Carro (ORCID: https://orcid.org/0000-0003-3301-5412)
- A. Rocco
Institutions
- Vita-Salute San Raffaele University (IT)
- San Raffaele University of Rome (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-03-23
- DOI
- https://doi.org/10.1212/nxg.0000000000200368
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00