Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
- 8 July 1993
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 329 (2) , 96-101
- https://doi.org/10.1056/nejm199307083290205
Abstract
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase (Mb) DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplicated segment appears to cause the disease. The PMP22 gene, which encodes a myelin protein, has been mapped within the duplication and proposed as a candidate gene for CMT type 1A.Keywords
This publication has 34 references indexed in Scilit:
- Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unitNature Genetics, 1992
- Molecular Genetics and Neuropathology of Charcot‐Marie‐Tooth Disease Type 1ABrain Pathology, 1992
- De-novo mutation in hereditary motor and sensory neuropathy type IThe Lancet, 1992
- Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot‐Marie‐Tooth disease type 1)Annals of Neurology, 1992
- Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.Journal of Medical Genetics, 1992
- Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.Journal of Medical Genetics, 1992
- DNA duplication associated with Charcot-Marie-Tooth disease type 1ACell, 1991
- Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)Neuromuscular Disorders, 1991
- Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17Experimental Neurology, 1989
- Genetic and clinical aspects of Charcot‐Marie‐Tooth's diseaseClinical Genetics, 1974