PMID- 11369192
OWN - NLM
STAT- MEDLINE
DCOM- 20010719
LR  - 20191025
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 11
IP  - 4
DP  - 2001 May
TI  - A novel 3'-splice site mutation in peripheral myelin protein 22 causing 
      hereditary neuropathy with liability to pressure palsies.
PG  - 400-3
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal 
      dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent 
      painless focal neuropathies mostly preceded by minor trauma or compression at 
      entrapment sites of peripheral nerves. In the majority of the patients, HNPP is 
      caused by a 1.5 Mb deletion on chromosome 17p11.2-p12 containing the peripheral 
      myelin protein 22 (PMP22) gene. Point mutations within this gene are reported in 
      only a few families. We report a novel mutation in the PMP22 gene in a Spanish 
      family with HNPP. The mutation is a 3' splice-site mutation, preceding coding 
      exon 3 (c.179-1 G>C), causing a mild HNPP phenotype.
FAU - Meuleman, J
AU  - Meuleman J
AD  - Department of Molecular Genetics, Flanders Interuniversity Institute for 
      Biotechnology, University of Antwerp, Antwerpen, Belgium.
FAU - Pou-Serradell, A
AU  - Pou-Serradell A
FAU - Lofgren, A
AU  - Lofgren A
FAU - Ceuterick, C
AU  - Ceuterick C
FAU - Martin, J J
AU  - Martin JJ
FAU - Timmerman, V
AU  - Timmerman V
FAU - Van Broeckhoven, C
AU  - Van Broeckhoven C
FAU - De Jonghe, P
AU  - De Jonghe P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (DNA, Recombinant)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Adult
MH  - Base Sequence/genetics
MH  - Child
MH  - *DNA, Recombinant
MH  - Electrophysiology
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/*genetics/pathology/physiopathology
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Myelin Proteins/*genetics
MH  - Paralysis/*genetics
MH  - Pedigree
MH  - Pressure
MH  - Sural Nerve/pathology
EDAT- 2001/05/23 10:00
MHDA- 2001/07/20 10:01
CRDT- 2001/05/23 10:00
PHST- 2001/05/23 10:00 [pubmed]
PHST- 2001/07/20 10:01 [medline]
PHST- 2001/05/23 10:00 [entrez]
AID - S0960896600002145 [pii]
AID - 10.1016/s0960-8966(00)00214-5 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2001 May;11(4):400-3. doi: 10.1016/s0960-8966(00)00214-5.