PMID- 10211478
OWN - NLM
STAT- MEDLINE
DCOM- 19990510
LR  - 20191024
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 45
IP  - 4
DP  - 1999 Apr
TI  - Recessive inheritance of a new point mutation of the PMP22 gene in
      Dejerine-Sottas disease.
PG  - 518-22
AB  - The existence of recessive transmission of Dejerine-Sottas disease, a severe
      demyelinating neuropathy of childhood, has been questioned, because only
      heterozygous mutations of the myelin proteins P0 or PMP22 genes have been
      identified in virtually all patients with this phenotype. We report on a family
      with 3 affected children with this phenotype, born to clinically and
      electrophysiologically unaffected parents. All 3 children carried a previously
      unknown homozygous missense point mutation (Arg157Trp) of the PMP22 gene. The
      parents were heterozygous for the same mutation. These findings demonstrate the
      occurrence of recessive transmission in this setting.
FAU - Parman, Y
AU  - Parman Y
AD  - Istanbul Medical Faculty, Department of Neurology, Turkey.
FAU - Plante-Bordeneuve, V
AU  - Plante-Bordeneuve V
FAU - Guiochon-Mantel, A
AU  - Guiochon-Mantel A
FAU - Eraksoy, M
AU  - Eraksoy M
FAU - Said, G
AU  - Said G
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
CIN - Ann Neurol. 2000 Jul;48(1):131-2. PMID: 10894234
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/*genetics/pathology
MH  - Humans
MH  - Male
MH  - Microscopy, Electron
MH  - Myelin Proteins/*genetics
MH  - Pedigree
MH  - Point Mutation/*genetics
MH  - Sural Nerve/pathology/ultrastructure
EDAT- 1999/04/22 00:00
MHDA- 1999/04/22 00:01
CRDT- 1999/04/22 00:00
PHST- 1999/04/22 00:00 [pubmed]
PHST- 1999/04/22 00:01 [medline]
PHST- 1999/04/22 00:00 [entrez]
AID - 10.1002/1531-8249(199904)45:4<518::aid-ana15>3.0.co;2-u [doi]
PST - ppublish
SO  - Ann Neurol. 1999 Apr;45(4):518-22. doi:
      10.1002/1531-8249(199904)45:4<518::aid-ana15>3.0.co;2-u.