title: Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
abstract: A recessive demyelinating subtype of Charcot-Marie-Tooth disease called CMT4 is a heterogeneous group of disorders. A relatively frequent form of recessive CMT (CMT4 A) has been mapped to the chromosome 8 q21 and shown to be caused by mutations in the ganglioside-induced differentiation protein 1 (GDAP1) gene. Twenty mutations in the GDAP1 gene have been reported in patients suffering from the axonal and demyelinating forms of CMT disease. In this study we report two novel mutations in the GDAP1 gene in a patient suffering from CMT2 disease and whose parents were asymptomatic carriers of a Ser130Cys and 3'-splice site (311-1G > A) mutation, respectively.
authors.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Kabzińska
authors.forename: A
authors.initials: A
authors.lastname: Kochański
authors.forename: H
authors.initials: H
authors.lastname: Drac
authors.forename: B
authors.initials: B
authors.lastname: Ryniewicz
authors.forename: K
authors.initials: K
authors.lastname: Rowińska-Marcińska
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D010543:Peroneal Nerve / Q000473:pathology / Q000503:physiopathology; D022821:RNA Splice Sites / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins; D022821:RNA Splice Sites