Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 16534116.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.
Medical subject headings
- Charcot-Marie-Tooth Disease
- Membrane Proteins
- Sequence Deletion