KEGG   VARIANT: 4359v1
Entry
4359v1                      Variant                                
Name
MPZ mutation
Type
Loss of function
Gene
MPZ  myelin protein zero [KO:K06770]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 159440
Network
nt06546  IgSF CAM signaling
Disease
H00264  Charcot-Marie-Tooth disease
H01155  Roussy-Levy syndrome
H02357  Congenital hypomyelinating neuropathy
H02359  Dejerine-Sottas disease
Reference
  Authors
McCulloch MK, Mehryab F, Rashnonejad A
  Title
Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.
  Journal
Int J Mol Sci 25:ijms25179227 (2024)
DOI:10.3390/ijms25179227
Reference
PMID:9595994
  Authors
Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F
  Title
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
  Journal
Neurology 50:1397-401 (1998)
DOI:10.1212/wnl.50.5.1397
Reference
  Authors
De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C
  Title
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
  Journal
Brain 122 ( Pt 2):281-90 (1999)
DOI:10.1093/brain/122.2.281
Reference
  Authors
Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG
  Title
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
  Journal
J Neurol Neurosurg Psychiatry 67:174-9 (1999)
DOI:10.1136/jnnp.67.2.174
Reference
PMID:7506095
  Authors
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N
  Title
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
  Journal
Nat Genet 5:266-8 (1993)
DOI:10.1038/ng1193-266
Reference
  Authors
Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
  Title
The Roussy-Levy family: from the original description to the gene.
  Journal
LinkDB

DBGET integrated database retrieval system