Description:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
MYELIN PROTEIN ZERO; MPZ
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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IRISH
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| Gene |
MPZ |
| Chromosomal Location |
1q22 |
| Allelic Variant 1 |
159440.0002; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1b |
| Identified Mutation |
ASP90GLU; See 159440.0001.
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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 |
| 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 |
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| 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 |
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