Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
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.
Kabzinska
D
D
Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Drac
H
H
Sherman
D L
DL
Kostera-Pruszczyk
A
A
Brophy
P J
PJ
Kochanski
A
A
Hausmanowa-Petrusewicz
I
I
D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002648:Child; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017384:Sequence Deletion; D013497:Sural Nerve / Q000473:pathology
D008565:Membrane Proteins; C086745:periaxin