Abnormal fat distribution in two patients with RAB7A-associated Charcot-Marie-Tooth type 2B: a case report
Our case suggests that abnormal fat distribution may be a novel phenotypic feature in individuals with RAB7A-related CMT2B. Recognizing this manifestation may provide clinical insight into the lipid dysregulation and systemic effects in patients with CMT2B.
Authors
- Louise Sloth Kodal (ORCID: https://orcid.org/0000-0002-4568-9142)
- Nanna Witting (ORCID: https://orcid.org/0000-0002-0664-0709)
- Tina Dysgaard
Institutions
- University of Copenhagen (DK)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
Publication Details
- Journal
- BMC Neurology
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1186/s12883-025-04542-5
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00