Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Human mutation - 1 Aug 2003
Hunter Michael, Bernard Rafaëlle, Freitas Elizabeth, Boyer Amandine, Morar Bharti, Martins Ian J, Tournev Ivailo, Jordanova Albena, Guergelcheva Velina, Ishpekova Boryana, Kremensky Ivo, Nicholson Garth, Schlotter Beate, Lochmüller Hanns, Voit Thomas, Colomer Jaume, Thomas P K, Levy Nicolas, Kalaydjieva Luba
Abstract excerpt
In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Alternative Splicing
- Cell Cycle Proteins
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool