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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Linkage of a locus (CMT4A) for autosomal recessive charcot-marie-tooth disease to chromosome 8q
Human Molecular Genetics, Volume 2, No. 10, Year 1993
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Description
Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series of Tunisian CMT4 families according to the following electrophysiological and pathological criteria: slow motor nerve conduction velocity (MCV), severe hypomyelination upon nerve biopsy with basal lamina onion bulbs and no myeiin outfolding. In an attempt to localize the CMT4A locus, we studied four inbred families with 13 affected patients. Significant evidence for linkage was found for several markers from chromosome 8q13-21.1 (D8S279, D8S164, D8S286, D8S84, D8S275 and D8S167). An overall two point peak lod score of z(θ)=9.19 at θ=0.00(95% confidence limit 0.00-0.08) was obtained for D8S164. No evidence of genetic heterogeneity was found. The chromosomal localization of one form of CMT4 will have important implications in clarifying the nosology of this complex group of disorders. © 1993 Oxford University Press.
Authors & Co-Authors
Othmane, Kamel Ben
United States, Durham
Duke University Medical Center
Hentatl, F.
United States, Durham
Duke University Medical Center
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Lennon, F.
United States, Durham
Duke University Medical Center
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Hamida, Christiane Ben
United States, Durham
Duke University Medical Center
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Blel, S.
United States, Durham
Duke University Medical Center
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Roses, Allen David
United States, Durham
Duke University Medical Center
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Kunkle, Brian W.
United States, Durham
Duke University Medical Center
Hamida, Mongi Ben
United States, Durham
Duke University Medical Center
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Vance, Jeffery M.
United States, Durham
Duke University Medical Center
Statistics
Citations: 184
Authors: 9
Affiliations: 2
Identifiers
Doi:
10.1093/hmg/2.10.1625
ISSN:
09646906
Research Areas
Genetics And Genomics
Maternal And Child Health