Human Molecular Genetics, Vol 5, 1685-1688, Copyright © 1996 by Oxford University Press
E LeGuern, A Guilbot, M Kessali, N Ravise, J Tassin, T Maisonobe, D Grid and A Brice
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.
ARTICLES
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
INSERM U289, Hopital de la Salpetriere, Paris, France.
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