The DOI matches its Crossref record.
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
Abstract
Charcot-Marie-Tooth (CMT) disease is the most frequent inherited peripheral motor and sensory neuropathy characterised by chronic distal weakness with progressive muscular atrophy and sensory loss of the distal extremities. The dominant form of the disease is genetically heterogeneous but only one locus has been identified on chromosome 8q13-q21.1 for autosomal recessive CMT. By homozygosity mapping in a large Algerian kindred, we have assigned a second locus for autosomal recessive CMT to chromosome 5q23-33. Linkage analysis demonstrated that the same locus is involved in a second Algerian family with a demyelinating CMT. Haplotype reconstruction and determination of the minimal region of homozygosity restricts the candidate region to a 4 cM interval.
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CMT4C is associated with impaired myelination of the PNS.
“One condition associated with impaired myelination of the PNS is Charcot-Marie-Tooth disease type 4C (CMT4C) (LeGuern et al., 1996).”
From SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling (2010) · cites this paper as LeGuern et al., 1996
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Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
Stendel, C., Roos, A., Kleine, H., Arnaud, E., Özçelik, M., Sidiropoulos, P. N. M., Zenker, J., Schüpfer, F., Lehmann, U., Sobota, R. M., et al. (2010) · Brain · doi:10.1093/brain/awq168 · Cited by 102
Metadata
- Authors
- LeGuern, E.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1996-10-01
- Volume
- 5
- Issue
- 10
- Pages
- 1685-1688
- ISSN
- 1460-2083
- Cited by
- 94
- References
- 0
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