PMID- 10214757
OWN - NLM
STAT- MEDLINE
DCOM- 19990512
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 52
IP  - 6
DP  - 1999 Apr 12
TI  - A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded 
      myelin sheaths.
PG  - 1271-5
AB  - We found the association of a heterozygous novel MPZ gene point mutation,
      Ile62Phe in exon 2, with autosomal dominant motor and sensory neuropathy with
      focally folded myelin sheaths. Family study revealed that de novo Ile62Phe
      mutation on the MPZ gene occurred in the proband and was inherited by her
      children with early onset slowly progressive neuropathy. Our study suggests that 
      the characteristic pathologic findings of the sural nerve in these patients are
      closely related to the site and nature of amino acid substitutions of the MPZ
      gene.
FAU - Nakagawa, M
AU  - Nakagawa M
AD  - Third Department of Internal Medicine, Kagoshima University School of Medicine,
      Kagoshima City, Japan. nakagawa@med6.kufm.kagoshima-u.acjp
FAU - Suehara, M
AU  - Suehara M
FAU - Saito, A
AU  - Saito A
FAU - Takashima, H
AU  - Takashima H
FAU - Umehara, F
AU  - Umehara F
FAU - Saito, M
AU  - Saito M
FAU - Kanzato, N
AU  - Kanzato N
FAU - Matsuzaki, T
AU  - Matsuzaki T
FAU - Takenaga, S
AU  - Takenaga S
FAU - Sakoda, S
AU  - Sakoda S
FAU - Izumo, S
AU  - Izumo S
FAU - Osame, M
AU  - Osame M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Exons
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/*genetics
MH  - Humans
MH  - Microscopy, Electron
MH  - Myelin Sheath/*genetics
MH  - Pedigree
MH  - *Point Mutation
MH  - Sural Nerve/ultrastructure
EDAT- 1999/04/24 00:00
MHDA- 1999/04/24 00:01
CRDT- 1999/04/24 00:00
PHST- 1999/04/24 00:00 [pubmed]
PHST- 1999/04/24 00:01 [medline]
PHST- 1999/04/24 00:00 [entrez]
AID - 10.1212/wnl.52.6.1271 [doi]
PST - ppublish
SO  - Neurology. 1999 Apr 12;52(6):1271-5. doi: 10.1212/wnl.52.6.1271.