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1: Neurology. 2006 Mar 14;66(5):745-7.Click here to read Links

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.

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.

PMID: 16534116 [PubMed - indexed for MEDLINE]