| Plp1 Gene Analysis In Eighty Eight Patients With Leukodystrophy. | |
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MedLine Citation:
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PMID: 23347225 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Introduction. Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Methods. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation-dependent Probe Amplification technique (MLPA) and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array-CGH. Results. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array-CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Conclusions. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series. |
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Authors:
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P Martínez-Montero; M Muñoz-Calero; E Vallespín; J Campistol; L Martorell; Mj Ruiz-Falcó; A Santana; R Pons; A Dinopoulos; C Sierra; J Nevado; J Molano |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-25 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2013 John Wiley & Sons A/S. |
Affiliation:
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INGEMM. IdIPAZ. CIBERER. Hospital Universitario La Paz, Madrid., Spain. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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