CMT Type 4F caused by S399fsx410 mutation in the PRX gene

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Neurology. 2006 Mar 14;66(5):745-7.

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.