PMID- 10319895
OWN - NLM
STAT- MEDLINE
DCOM- 19990525
LR  - 20191024
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 45
IP  - 5
DP  - 1999 May
TI  - Congenital hypomyelination due to myelin protein zero Q215X mutation.
PG  - 676-8
AB  - Congenital hypomyelination (CH) is a hereditary demyelinating peripheral
      neuropathy characterized by early infancy onset, distal muscle weakness,
      hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the
      present report, the clinical, morphological, and immunohistochemical features of 
      a CH case and the identification of a mutation in the gene (MPZ) for protein zero
      (P0) associated with this phenotype are described. This "de novo" mutation in a
      patient presenting with clinical features quite distinct from those of the more
      frequent Charcot-Marie-Tooth type 1B disease (CMT1B) or Dejerine-Sottas syndrome 
      (DSS) confirms that CH is allelic with other disorders characterized by a less
      severe phenotype and a different clinical and neuropathological profile.
FAU - Mandich, P
AU  - Mandich P
AD  - Institute of Biology and Genetics, University of Genoa, Italy.
FAU - Mancardi, G L
AU  - Mancardi GL
FAU - Varese, A
AU  - Varese A
FAU - Soriani, S
AU  - Soriani S
FAU - Di Maria, E
AU  - Di Maria E
FAU - Bellone, E
AU  - Bellone E
FAU - Bado, M
AU  - Bado M
FAU - Gross, L
AU  - Gross L
FAU - Windebank, A J
AU  - Windebank AJ
FAU - Ajmar, F
AU  - Ajmar F
FAU - Schenone, A
AU  - Schenone A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (Myelin P0 Protein)
SB  - IM
MH  - Demyelinating Diseases/*genetics/pathology
MH  - Female
MH  - Humans
MH  - Immunohistochemistry
MH  - Infant
MH  - Mutation
MH  - Myelin P0 Protein/*genetics
MH  - Myelin Sheath/*pathology
MH  - Phenotype
MH  - Sural Nerve/pathology
EDAT- 1999/05/13 00:00
MHDA- 1999/05/13 00:01
CRDT- 1999/05/13 00:00
PHST- 1999/05/13 00:00 [pubmed]
PHST- 1999/05/13 00:01 [medline]
PHST- 1999/05/13 00:00 [entrez]
AID - 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k [doi]
PST - ppublish
SO  - Ann Neurol. 1999 May;45(5):676-8. doi:
      10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k.