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The challenge of CMTX and connexin 32 mutations

✍ Scribed by Richard A. Lewis


Book ID
101255518
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
74 KB
Volume
23
Category
Article
ISSN
0148-639X

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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

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The coding region of Cx32 was amplified by touchdown polymerase chain reaction (PCR) (Don et al., 1991). Three primer sets were used corresponding to nucleotides 54-77 (CX32-1) and 336-359 (CX32-2), i.e., part 1, 273-269 (Cx32-3) and 685-704 (Cx32-5), i.e., part 2, and 635-658 (Cx32-S1) and 919-938