PMID- 10545037
OWN - NLM
STAT- MEDLINE
DCOM- 19991123
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 6-7
DP  - 1999 Oct
TI  - Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
PG  - 361-7
AB  - Morphological modifications were investigated in the peripheral nerve of three
      unrelated patients with CMT1B. In two patients, molecular genetic analysis showed
      an Arg98His mutation in the extracellular domain of MPZ, associated with
      irregularly uncompacted lamellae. This observation confirms previous studies of a
      well-defined correlation between mutations and morphological phenotypes. In the
      third patient, a de novo Asp109Asn mutation was associated with abnormally thick 
      myelin sheaths. This adds to the known list of MPZ gene mutations associated with
      this morphological phenotype.
FAU - Lagueny, A
AU  - Lagueny A
AD  - Service de Neurologie, Hopital Haut-Leveque, CHU Bordeaux, Pessac, France.
FAU - Latour, P
AU  - Latour P
FAU - Vital, A
AU  - Vital A
FAU - Rajabally, Y
AU  - Rajabally Y
FAU - Le Masson, G
AU  - Le Masson G
FAU - Ferrer, X
AU  - Ferrer X
FAU - Bernard, I
AU  - Bernard I
FAU - Julien, J
AU  - Julien J
FAU - Vital, C
AU  - Vital C
FAU - Vandenberghe, A
AU  - Vandenberghe A
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 (Myelin P0 Protein)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution
MH  - Charcot-Marie-Tooth Disease/*genetics/*pathology
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 17
MH  - Exons
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Muscle, Skeletal/innervation/pathology
MH  - Myelin P0 Protein/*genetics
MH  - Myelin Sheath/*pathology
MH  - Nerve Fibers/pathology
MH  - Pedigree
MH  - Peripheral Nerves/pathology
MH  - *Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Restriction Mapping
EDAT- 1999/11/02 00:00
MHDA- 1999/11/02 00:01
CRDT- 1999/11/02 00:00
PHST- 1999/11/02 00:00 [pubmed]
PHST- 1999/11/02 00:01 [medline]
PHST- 1999/11/02 00:00 [entrez]
AID - 10.1016/s0960-8966(99)00031-0 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 Oct;9(6-7):361-7. doi: 10.1016/s0960-8966(99)00031-0.