Entire Sequence Deletion of PMP22 Presenting as a Length-dependent Peripheral Neuropathy (P12-11.023)
To highlight an unusual case of a patient with an entire sequence deletion of PMP22 who presents with a phenotype of a length-dependent, sensorimotor peripheral neuropathy and clubfoot.
Authors
- Patrick Kwon (ORCID: https://orcid.org/0000-0003-2864-859X)
- Marissa Ilardi
Institutions
- New York University (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000212278
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00