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dc.contributor.authorMurphy, Sinéad M
dc.contributor.authorLaurá, Matilde
dc.contributor.authorReilly, Mary M
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.
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
html.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.


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