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Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

✍ Scribed by D. Pareyson

Book ID
106267825
Publisher
Springer Milan
Year
2004
Tongue
English
Weight
84 KB
Volume
25
Category
Article
ISSN
1590-1874

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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

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Charcot-Marie-Tooth disease (CMT; Hereditary Motor and Sensory Neuropathy, HMSN), the most common genetic neuropathy, with an incidence of 1/2600 in Norway (Skre, 1974), has been reported in individuals on every continent. The multiple CMT disease categories result from mutations in at least eight d