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Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results

✍ Scribed by P. De JONGHE; E. NELIS; V. TIMMERMAN; A. LÖFGREN; J-J. MARTIN; C. VAN BROECKHOVEN


Book ID
111395467
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
673 KB
Volume
883
Category
Article
ISSN
0890-6564

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Charcot–Marie–Tooth disease and related
✍ Davide Pareyson 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views

Great advances have been made in understanding the molecular basis of Charcot-Marie-Tooth disease (CMT) and related neuropathies, namely Dejerine-Sottas disease (DSD), hereditary neuropathy with liability to pressure palsies (HNPP) and congenital hypomyelination (CH). The number of newly uncovered m