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COMMON THEMES IN PERIPHERAL NEUROPATHY DISEASE GENES
Author(s) -
Snipes G. Jackson,
Orfali Wayel
Publication year - 1998
Publication title -
cell biology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.932
H-Index - 77
eISSN - 1095-8355
pISSN - 1065-6995
DOI - 10.1006/cbir.1998.0389
Subject(s) - peripheral myelin protein 22 , phenotype , myelin , genetics , peripheral neuropathy , biology , gene , mutation , disease , tooth disease , loss function , function (biology) , peripheral , clinical phenotype , neuroscience , bioinformatics , medicine , pathology , endocrinology , central nervous system , diabetes mellitus
After a century of study, mutations in connexin32, peripheral myelin protein22, and protein zero are now known to culminate in the prototypical phenotype of Charcot‐Marie‐Tooth disease. Many of these mutations have been modeled in rodents and in tissue culture. Consequently, structure—function predictions for these mutations are now possible and detailed analyses of many of them are ongoing. Despite the marked differences in the functions of these three proteins, it is profitable to consider the many similarities between them, including the types of mutational mechanisms and their effects on myelin structure and function. Accordingly, the biology and genetics of Charcot‐Marie‐Tooth disease and other inherited peripheral neuropathies due to mutations in these proteins are reviewed.