Assignment of the Charcot-Marie-Tooth neuropathy type I (CMT Ia) gene to 17p11.2-p12

Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA marker D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage wit...

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Bibliographic Details
Published in:American journal of human genetics 1990-10, Vol.47 (4), p.680-685
Main Authors: TIMMERMAN, V, RAEYMAEKERS, P, DE JONGHE, P, DE WINTER, G, SWERTZ, L, JACOBS, K, GHEUENS, J, MARTIN, J.-J, VANDENBERGHE, A, VAN BROECKHOVEN, C
Format: Article
Language:English
Subjects:
Biological and medical sciences
chromosome 17
Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
genes
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
neuropathy
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Summary:Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA marker D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.
ISSN:0002-9297
1537-6605