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作 者:Rossella Cannarella Giovanni Burgio Sandro La Vignera Enzo S Vicari Aldo E Calogero
机构地区:[1]Department of Clinical and Experimental Medicine, University of Catania, Catania95123, Italy
出 处:《Asian Journal of Andrology》2018年第5期529-530,共2页亚洲男性学杂志(英文版)
摘 要:Dear Editor,The occurrence of delayed ejaculation or ane)aculation has been previously suggested in patients with Charcot-Marie-Tooth (CMT) syndrome.1 Despite this, such disorder is rarely investigated and may be underestimated in patients with this disease. We report the case of a 20-year-old men with CMT 1B due to the presence of a punctiform mutation in the exon 2 of the myelin protein zero (MPZ) gene ( 1 q23.3) (Ser78Leu), complaining for life-long anejaculation. He inherited this mutation from the mother and it has also been detected in his grandmother. No other components of his family were positive at the genetic testing.Dear Editor,The occurrence of delayed ejaculation or ane)aculation has been previously suggested in patients with Charcot-Marie-Tooth (CMT) syndrome.1 Despite this, such disorder is rarely investigated and may be underestimated in patients with this disease. We report the case of a 20-year-old men with CMT 1B due to the presence of a punctiform mutation in the exon 2 of the myelin protein zero (MPZ) gene ( 1 q23.3) (Ser78Leu), complaining for life-long anejaculation. He inherited this mutation from the mother and it has also been detected in his grandmother. No other components of his family were positive at the genetic testing.
分 类 号:S852.653[农业科学—基础兽医学] TN141.32[农业科学—兽医学]
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