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NA13363 DNA from LCL

Description:

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
MYELIN PROTEIN ZERO; MPZ

Affected:

Yes

Sex:

Female

Age:

32 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity IRISH
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Type 1b; marked peripheral neuropathy with slow nerve conduction velocities; pedigree shows 8 affecteds in 4 generations; heterozygous for a C to A mutation at position 270 (270C>A) [Asp90Glu (D90E)] in myelin glucoprotein P-zero [P(0)] gene

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene MPZ
Chromosomal Location 1q22
Allelic Variant 1 159440.0002; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1b
Identified Mutation ASP90GLU; See 159440.0001.

Phenotypic Data

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Remarks Type 1b; marked peripheral neuropathy with slow nerve conduction velocities; pedigree shows 8 affecteds in 4 generations; heterozygous for a C to A mutation at position 270 (270C>A) [Asp90Glu (D90E)] in myelin glucoprotein P-zero [P(0)] gene

Publications

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Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF, Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene [see comments] Nat Genet5:31-4 1993
PubMed ID: 7693129
 
Bird TD, Ott J, Giblett ER, Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet34:388-94 1982
PubMed ID: 6952764

External Links

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dbSNP dbSNP ID: 22633
Gene Cards MPZ
Gene Ontology GO:0005198 structural molecule activity
GO:0005887 integral to plasma membrane
GO:0007156 homophilic cell adhesion
GO:0007268 synaptic transmission
GO:0007422 peripheral nervous system development
GO:0007638 mechanosensory behavior
GO:0008366 nerve ensheathment
GO:0016020 membrane
NCBI Gene Gene ID:4359
NCBI GTR 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
159440 MYELIN PROTEIN ZERO; MPZ
OMIM 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
159440 MYELIN PROTEIN ZERO; MPZ
Omim Description CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1B
  CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE
  CMT, TYPE 1B
  HEREDITARY MOTOR AND SENSORY NEUROPATHY
  HEREDITARY MOTOR AND SENSORY NEUROPATHY 1B
  HMSN 1B
  HMSN1
  PERONEAL MUSCULAR ATROPHY
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$281.00USD
Academic/Non-profit/Government:
$139.00USD
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  • GM13363 - B-Lymphocyte
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