Article
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
International journal of molecular sciences - 21 Aug 2024
Atkinson Derek, Chamova Teodora, Candayan Ayse, Kastreva Kristina, Asenov Ognian, Litvinenko Ivan, Estrada-Cuzcano Alejandro, De Vriendt Els, Kukushev Georgi, Tournev Ivailo, Jordanova Albena
Abstract excerpt
Charcot-Marie-Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in the N-Myc Downstream Regulated 1 gene (NDRG1). Patients present with an early onset demyelinating peripheral neuropathy causing severe distal muscle weakness and sensory loss, leading to loss of ambulation and progressive sensorineural hearing loss. The disorder was initially...
Topics
- Adolescent
- Adult
- Child
- Female
- Humans
- Male
- Middle Aged
- Young Adult
- Bulgaria
- Cell Cycle Proteins