Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620111
Title:
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Authors:
Aharoni, S.; Barwick, K.; Straussberg, R.; Harlalka, G. V.; Nevo, Y.; Chioza, B.; McEntagart, M. M.; Mimouni-Bloch, A.; Weedon, M. N.; Crosby, Andrew H.
Abstract:
CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation.
Citation:
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. 2016, 17 (1):82 BMC Med. Genet.
Publisher:
BioMed Central
Journal:
BMC Medical Genetics
Issue Date:
16-Nov-2016
URI:
http://hdl.handle.net/11287/620111
DOI:
10.1186/s12881-016-0343-x
PubMed ID:
27852232
Additional Links:
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0343-x
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Journal Article; Case Report
Language:
en
ISSN:
1471-2350
Appears in Collections:
Honorary contracts publications; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorAharoni, S.en
dc.contributor.authorBarwick, K.en
dc.contributor.authorStraussberg, R.en
dc.contributor.authorHarlalka, G. V.en
dc.contributor.authorNevo, Y.en
dc.contributor.authorChioza, B.en
dc.contributor.authorMcEntagart, M. M.en
dc.contributor.authorMimouni-Bloch, A.en
dc.contributor.authorWeedon, M. N.en
dc.contributor.authorCrosby, Andrew H.en
dc.date.accessioned2016-12-05T10:52:19Z-
dc.date.available2016-12-05T10:52:19Z-
dc.date.issued2016-11-16-
dc.identifier.citationNovel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. 2016, 17 (1):82 BMC Med. Genet.en
dc.identifier.issn1471-2350-
dc.identifier.pmid27852232-
dc.identifier.doi10.1186/s12881-016-0343-x-
dc.identifier.urihttp://hdl.handle.net/11287/620111-
dc.description.abstractCMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttps://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0343-xen
dc.rightsArchived with thanks to BMC Medical Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleNovel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.en
dc.typeJournal Articleen
dc.typeCase Reporten
dc.identifier.journalBMC Medical Geneticsen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.