A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (Articolo in rivista)

Type
Label
  • A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.jns.2007.05.034 (literal)
Alternative label
  • Muglia M; Patitucci A; Rizzi R; Ungaro C; Conforti FL; Gabriele AL; Magariello A; Mazzei R; Motti L; Sabadini R; Sprovieri T; Marcello N; Quattrone A. (2007)
    A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
    in Journal of the neurological sciences
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Muglia M; Patitucci A; Rizzi R; Ungaro C; Conforti FL; Gabriele AL; Magariello A; Mazzei R; Motti L; Sabadini R; Sprovieri T; Marcello N; Quattrone A. (literal)
Pagina inizio
  • 194 (literal)
Pagina fine
  • 197 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 263 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 1-2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy;Neurology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, Italy,Institute of Neurology, University “Magna Graecia”, Catanzaro, Italy (literal)
Titolo
  • A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (literal)
Abstract
  • Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent sensory or motor dysfunction. In 85% of HNPP cases the genetic defect is a 1.4 Mb deletion on chromosome 17p11.2, encompassing the PMP22 gene. Point mutations in the PMP22 gene responsible for HNPP phenotypes are rare. We investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT). This novel mutation creates a shift on the reading frame starting at codon 4 and leads to the introduction of a premature stop at codon 6. (literal)
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