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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2007-11-6
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0022-510X
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pubmed:author |
pubmed-author:ConfortiFrancesca LuisaFL,
pubmed-author:GabrieleAnna LiaAL,
pubmed-author:MagarielloAngelaA,
pubmed-author:MazzeiRosaluciaR,
pubmed-author:MottiLuisaL,
pubmed-author:MugliaMariaM,
pubmed-author:NorinaMarcelloM,
pubmed-author:PatitucciAlessandraA,
pubmed-author:QuattroneAldoA,
pubmed-author:RizziRomanaR,
pubmed-author:SabadiniRossellaR,
pubmed-author:SprovieriTeresaT,
pubmed-author:UngaroCarmineC
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
263
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
194-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17707409-Adolescent,
pubmed-meshheading:17707409-Chromosomes, Human, Pair 17,
pubmed-meshheading:17707409-DNA Mutational Analysis,
pubmed-meshheading:17707409-Exons,
pubmed-meshheading:17707409-Family Health,
pubmed-meshheading:17707409-Female,
pubmed-meshheading:17707409-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:17707409-Humans,
pubmed-meshheading:17707409-Italy,
pubmed-meshheading:17707409-Male,
pubmed-meshheading:17707409-Middle Aged,
pubmed-meshheading:17707409-Myelin Proteins,
pubmed-meshheading:17707409-Neural Conduction,
pubmed-meshheading:17707409-Paralysis,
pubmed-meshheading:17707409-Point Mutation,
pubmed-meshheading:17707409-Pressure
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pubmed:year |
2007
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pubmed:articleTitle |
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
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pubmed:affiliation |
Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy. m.muglia@isn.cnr.it
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pubmed:publicationType |
Journal Article
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