Novel Biallelic <scp>PLEKHG5</scp> Variant Associated With Intermediate Charcot‐Marie‐Tooth Disease: Case Report From South America
This reports presents a case from South American linking a homozygous PLEKHG5 variant to recessive intermediate CMT, expanding the geographic and phenotypic spectrum of PLEKHG5-related neuropathies.
Authors
- Pedro José Tomaselli (ORCID: https://orcid.org/0000-0002-1485-3771)
- Glenda Corrêa Borges De Lacerda
- Rafael Oliveira Vidon
- Marcia Rodrigues Jardim
- Izabela Jardim Pitta
- Caroline Bittar‐Braune
Institutions
- Universidade de Ribeirão Preto (BR)
- Universidade de São Paulo (BR)
- Hospital Universitário Gaffrée e Guinle (BR)
- Hospital Universitário Pedro Ernesto (BR)
- Hospital Universitário Antônio Pedro (BR)
- Clinics Hospital of Ribeirão Preto (BR)
- Universidade Federal do Estado do Rio de Janeiro (BR)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1111/jns.70099
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Medical Research Council