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The MFN2 V705I Variant Is Not a Disease-Causing Mutation : A Segregation Analysis in a CMT2 Family
Joint Authors
Reddel, Stephen
Kennerson, Marina
Nicholson, Garth
Zhu, Danqing
Albulym, Obaid M.
Source
Journal of Neurodegenerative Diseases
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-28
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting both motor and sensory neurons in the peripheral nervous system.
Mutations in the MFN2 gene cause an axonal form of CMT, CMT2A.
The V705I variant in MFN2 has been previously reported as a disease-causing mutation in families with CMT2.
We identified an affected index patient from an Australian multigenerational family with the V705I variant.
Segregation analysis showed that the V705I variant did not segregate with the disease phenotype and was present in control individuals with an allele frequency of 4.4%.
We, therefore, propose that the V705I variant is a polymorphism and not a disease-causing mutation as previously reported.
American Psychological Association (APA)
Albulym, Obaid M.& Zhu, Danqing& Reddel, Stephen& Kennerson, Marina& Nicholson, Garth. 2012. The MFN2 V705I Variant Is Not a Disease-Causing Mutation : A Segregation Analysis in a CMT2 Family. Journal of Neurodegenerative Diseases،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-476261
Modern Language Association (MLA)
Albulym, Obaid M.…[et al.]. The MFN2 V705I Variant Is Not a Disease-Causing Mutation : A Segregation Analysis in a CMT2 Family. Journal of Neurodegenerative Diseases No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-476261
American Medical Association (AMA)
Albulym, Obaid M.& Zhu, Danqing& Reddel, Stephen& Kennerson, Marina& Nicholson, Garth. The MFN2 V705I Variant Is Not a Disease-Causing Mutation : A Segregation Analysis in a CMT2 Family. Journal of Neurodegenerative Diseases. 2012. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-476261
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-476261