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TASAKI, Naohito; YOSHIDA, Kunihiro; HARUTA, Sei-ichi; KOUNO, Hiroki; ICHINOSE, Hiroyuki; FUJIMOTO, Yoshihisa; URASAWA, Nobuyuki; KAWAKAMI, Tohru; TANIGUCHI, Manabu; KURUSHIMA, Shu-ji; SHIMAKURA, Tadayuki
Internal Medicine, 12/2001, Letnik: 40, Številka: 12Journal Article
A 36-year-old Japanese man was hospitalized with coughing and exertional dyspnea (NYHA class I). He was diagnosed as having congestive heart failure, and was treated with diuretics and a β-adrenergic blocking agent. He responded well to the treatment and his symptoms completely disappeared within a few days. Based on his clinical, laboratory, and molecular genetic findings, he was diagnosed as having X-linked dilated cardiomyopathy (XLDCM). He was found to have a large deletion in the dystrophin gene, involving exons 45-55. This is the first report on a Japanese XLDCM patient with a mutation in the central hot-spot region of this gene. (Intenal Medicine 40: 1215-1221, 2001)
