<scp><i>ITPR3</i></scp>‐associated neuropathy: Report of a further family with adult onset intermediate Charcot–Marie–Tooth disease
The c.4271C > T ITPR3 variant causes a late onset CMT that can be considered an intermediate CMT. Considering the electrophysiological findings and the distribution of IP<sub>3</sub>R3, we hypothesize that this variant could start as nodal dysfunction that progresses to widespread nerve degeneration.
Authors
- Teresa Sevilla (ORCID: https://orcid.org/0000-0003-4716-2667)
- Rafael Sivera (ORCID: https://orcid.org/0000-0003-2810-1180)
- Elvira Millet
- Inmaculada Azorı́n (ORCID: https://orcid.org/0009-0009-6169-3844)
- Vincenzo Lupo (ORCID: https://orcid.org/0000-0002-3774-9854)
- Pilar Martí (ORCID: https://orcid.org/0000-0002-1022-9314)
- Juan J. Vílchez (ORCID: https://orcid.org/0000-0002-0532-2872)
- Javier Cabello‐Murgui (ORCID: https://orcid.org/0000-0001-6795-5854)
- Jesús Jiménez‐Jiménez (ORCID: https://orcid.org/0009-0007-3687-258X)
Institutions
- Universitat de València (ES)
- Instituto de Salud Carlos III (ES)
- Hospital Universitari i Politècnic La Fe (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
- Centro de Investigacion Principe Felipe (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1111/ene.16485
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.27
Funders
- Instituto de Salud Carlos III
- European Regional Development Fund