Hdl Handle:
http://hdl.handle.net/10147/302427
Title:
DNA testing in hereditary neuropathies.
Authors:
Murphy, Sinéad M; Laurá, Matilde; Reilly, Mary M
Affiliation:
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK; Department of Neurology, Adelaide & Meath Hospitals Incorporating the National Children's Hospital, Tallaght, Dublin, and Trinity College Dublin, Ireland. Electronic address: Sinead.Murphy@amnch.ie.
Citation:
DNA testing in hereditary neuropathies. 2013, 115:213-32 Handb Clin Neurol
Journal:
Handbook of clinical neurology
Issue Date:
2013
URI:
http://hdl.handle.net/10147/302427
DOI:
10.1016/B978-0-444-52902-2.00012-6
PubMed ID:
23931782
Abstract:
The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.
Item Type:
Article
Language:
en
Keywords:
DNA TESTING; NEUROLOGY
ISSN:
0072-9752

Full metadata record

DC FieldValue Language
dc.contributor.authorMurphy, Sinéad Men_GB
dc.contributor.authorLaurá, Matildeen_GB
dc.contributor.authorReilly, Mary Men_GB
dc.date.accessioned2013-09-27T11:50:46Z-
dc.date.available2013-09-27T11:50:46Z-
dc.date.issued2013-
dc.identifier.citationDNA testing in hereditary neuropathies. 2013, 115:213-32 Handb Clin Neurolen_GB
dc.identifier.issn0072-9752-
dc.identifier.pmid23931782-
dc.identifier.doi10.1016/B978-0-444-52902-2.00012-6-
dc.identifier.urihttp://hdl.handle.net/10147/302427-
dc.description.abstractThe inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Handbook of clinical neurologyen_GB
dc.subjectDNA TESTING-
dc.subjectNEUROLOGY-
dc.titleDNA testing in hereditary neuropathies.en_GB
dc.typeArticleen
dc.contributor.departmentMRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK; Department of Neurology, Adelaide & Meath Hospitals Incorporating the National Children's Hospital, Tallaght, Dublin, and Trinity College Dublin, Ireland. Electronic address: Sinead.Murphy@amnch.ie.en_GB
dc.identifier.journalHandbook of clinical neurologyen_GB
dc.description.fundingNo fundingen
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen

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