Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include...

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Veröffentlicht in:	Human genetics 1996-05, Vol.97 (5), p.642-649
Hauptverfasser:	ROA, B. B, GREENBERG, F, GUNARATNE, P, SAUER, C. M, LUBINSKY, M. S, KOZMA, C, MECK, J. M, MAGENIS, R. E, SHAFFER, L. G, LUPSKI, J. R
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Medical sciences Neurology
Online-Zugang:	Volltext
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