| | |  | | | | Record from Web of Science® | | | | | | |
| THE PERIPHERAL MYELIN PROTEIN GENE PMP-22 IS CONTAINED WITHIN THE CHARCOT-MARIE-TOOTH DISEASE TYPE-1A DUPLICATION |
|
|
| Author(s): TIMMERMAN V, NELIS E, VANHUL W, NIEUWENHUIJSEN BW, CHEN KL, WANG S, OTHMAN KB, CULLEN B, LEACH RJ, HANEMANN CO, DEJONGHE P, RAEYMAEKERS P, VANOMMEN GJB, MARTIN JJ, MULLER HW, VANCE JM, FISCHBECK KH, VANBROECKHOVEN C |
| Source: NATURE GENETICS Volume: 1 Issue: 3 Pages: 171-175 Published: JUN 1992 |
| Times Cited: 324 References: 29 |
| Abstract: Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV INSTELLING ANTWERP, DEPT BIOCHEM, BORN BUNGE FDN, NEUROGENET LAB, UNIV PLEIN 1, B-2610 WILRIJK, BELGIUM
2. UNIV PENN, SCH MED, DEPT NEUROL, PHILADELPHIA, PA 19104 USA
3. DUKE UNIV, MED CTR, DIV NEUROL, DURHAM, NC 27710 USA
4. UNIV TEXAS, HLTH SCI CTR, SAN ANTONIO, TX 78284 USA
5. UNIV DUSSELDORF, DEPT NEUROL, MOLEC NEUROBIOL LAB, W-4000 DUSSELDORF 1, GERMANY
6. UNIV INSTELLING ANTWERP, DEPT MED, BORN BUNGE FDN, NEUROPATHOL LAB, B-2610 WILRIJK, BELGIUM
7. ACAD HOSP ANTWERP, DIV NEUROL, B-2610 ANTWERP, BELGIUM
8. LEIDEN UNIV, DEPT HUMAN GENET, 2300 RA LEIDEN, NETHERLANDS |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JC982 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |