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X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq

✍ Scribed by A. Gal; J. Mücke; H. Theile; P. F. Wieacker; H. -H. Ropers; T. F. Wienker

Publisher
Springer
Year
1985
Tongue
English
Weight
485 KB
Volume
70
Category
Article
ISSN
0340-6717

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✦ Synopsis

A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xql3-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.

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