Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene
- 作者：Musumeci ; Olimpia ; Rodolico ; Carmelo ; Nishino ; Ichizo ; Guardo ; Giuseppe Di ; Migliorato ; Alba ; et. al.
- 关键词：HyperCKemia ; LAMP-2 deficiency ; Cardiomyopathy
- 刊名：Neuromuscular Disorders
- 出版年：2005
- 期刊代码：203_09608966
- 类别：med
- 出版时间：June, 2005
- 卷：15
- 期：6
- 页码：409-411
- 文件大小：76.9 K
摘要
Primary lysosome-associated membrane protein-2 (LAMP-2) deficiency is an X-linked disease, characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation, previously known as Danon disease. Mutations of lamp-2 gene have been reported so far in about 20 patients, one of whom was Italian. We describe a new Italian case with persistent hyperCKemia, exercise intolerance and hypertrophic cardiomyopathy but with no muscle weakness or mental impairment. Muscle biopsy revealed a vacuolar myopathy with mild glycogen storage, and immunohistochemical studies detected LAMP-2 deficiency. A new nucleotide substitution (T961C) on exon 8 of lamp-2 gene was identified as responsible for the protein deficiency. This is the first missense mutation so far described. LAMP-2 deficiency should be considered as a cause of recurrent hyperCKemia and hypertrophic cardiomyopathy.