Muscle & nerve. Supplement最新文献_第2页

Clinical and pathological observations in men lacking the gap junction protein connexin 32. 对缺乏缝隙连接蛋白 connexin 32 的男性的临床和病理观察。

Muscle & nerve. Supplement Pub Date : 2000-01-01

A F Hahn, P J Ainsworth, C C Naus, J Mao, C F Bolton

{"title":"Clinical and pathological observations in men lacking the gap junction protein connexin 32.","authors":"A F Hahn, P J Ainsworth, C C Naus, J Mao, C F Bolton","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The X-linked form of Charcot-Marie-Tooth disease has been associated with mutations in the connexin 32 (Cx 32) gene, which encodes a gap junction protein. The majority of identified mutations are missense, but a few nonsense mutations or frame-shifting microdeletions have been encountered. Functional assessments of the mutated gap junction protein have demonstrated altered or simple losses of function. Mutations segregate with a typical clinical phenotype, which is the result of an age-related, progressive neuropathy. The mechanisms that cause the nerve damage are unknown. This report describes the consequences of a unique deletion mutation that eliminates the entire coding sequence of Cx 32, resulting in the absence of the Cx 32 gap junction protein in affected, hemizygous men. The clinical expression of this unique mutation was studied by the clinical, electrophysiological, and pathological evaluation of this kinship of five generations. The resulting severe neuropathy combines features of demyelination, notably in paranodal distribution, and distal accentuated axonal degeneration. The predicted absence of Cx 32 gap junctions is shown to be associated with a severe dysfunction of the axon-Schwann cell unit. Observed changes resemble those of Cx 32-null mice. No central nervous system changes were demonstrated.</p>","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"9 ","pages":"S39-48"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21957532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}