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Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

✍ Scribed by Khalid Al-Thihli; Teresa Rudkin; Nancy Carson; Chantal Poulin; Serge Melançon; Vazken M. Der Kaloustian

Book ID
101448283
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
87 KB
Volume
146A
Category
Article
ISSN
1552-4825

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Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protei

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The two most common subtypes of Charcot-Marie-Tooth (CMT) disease are CMT1A and CMTX1. To determine whether these different genetic entities display different morphological phenotypes we compared sural nerve biopsies of CMT1A patients due to PMP22 duplication with biopsies of CMTX1 patients with pro