Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

2.50
Hdl Handle:
http://hdl.handle.net/10143/42313
Title:
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
Authors:
Braathen, Geir J; Sand, Jette C; Bukholm, Geir; Russell, Michael B
Citation:
BMC neurology 2007, 7:19
Additional Links:
http://www.biomedcentral.com/1471-2377/7/19

Full metadata record

DC FieldValue Language
dc.contributor.authorBraathen, Geir J-
dc.contributor.authorSand, Jette C-
dc.contributor.authorBukholm, Geir-
dc.contributor.authorRussell, Michael B-
dc.date.accessioned2008-12-13T21:06:32Z-
dc.date.available2008-12-13T21:06:32Z-
dc.date.issued2007-07-09-
dc.identifier.citationBMC neurology 2007, 7:19en
dc.identifier.issn1471-2377-
dc.identifier.pmid17620124-
dc.identifier.doi10.1186/1471-2377-7-19-
dc.identifier.urihttp://hdl.handle.net/10143/42313-
dc.description.abstractBACKGROUND: X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. METHODS: We describe two novel mutations in the connexin32 gene in two Norwegian families. RESULTS: Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probably results in a shorter non-functional protein structure. Affected individuals had an early age at onset usually in the first decade. The symptoms were more severe in men than women. All had severe muscle weakness in the legs. Several abortions were observed in this family. Family 2 had a c.536 G>A (C179Y) transition which causes a change of the highly conserved cysteine residue, i.e. disruption of at least one of three disulfide bridges. The mean age at onset was in the first decade. Muscle wasting was severe and correlated with muscle weakness in legs. The men and one woman also had symptom from their hands. The neuropathy is demyelinating and the nerve conduction velocities were in the intermediate range (25-49 m/s). Affected individuals had symmetrical clinical findings, while the neurophysiology revealed minor asymmetrical findings in nerve conduction velocity in 6 of 10 affected individuals. CONCLUSION: The two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode.en
dc.language.isoenen
dc.relation.urlhttp://www.biomedcentral.com/1471-2377/7/19en
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Nevrologi: 752en
dc.subjectVDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714en
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAge of Onseten
dc.subject.meshCharcot-Marie-Tooth Diseaseen
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshConnexinsen
dc.subject.meshFemaleen
dc.subject.meshGap Junctionsen
dc.subject.meshGenetic Diseases, X-Linkeden
dc.subject.meshHumansen
dc.subject.meshInfanten
dc.subject.meshMaleen
dc.subject.meshMutationen
dc.subject.meshPedigreeen
dc.subject.meshSeverity of Illness Indexen
dc.titleTwo novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.en
dc.typeJournal articleen
dc.typepeer revieweden
dc.contributor.departmentFaculty Division Akershus University Hospital, University of Oslo, 1474 Nordbyhagen, Oslo, Norway. g.j.braathen@medisin.uio.noen
dc.identifier.journalBMC neurologyen
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