## Communicated by Mark Paalman Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22,
Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes
✍ Scribed by V.A. Street; G. Meekins; H.P. Lipe; W.K. Seltzer; G.T. Carter; G.H. Kraft; T.D. Bird
- Book ID
- 117669566
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 151 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0960-8966
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We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variatio
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