Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with...

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Bibliographic Details
Main Authors: W. Marques Jr., M.G. Sweeney, N.W. Wood
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2003-10-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Charcot-Marie-Tooth disease
CMT1A
PMP22 point mutation
17p duplication
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Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000018

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