Musumeci Olimpia, Rodolico Carmelo, Nishino Ichizo, Di Guardo Giuseppe, Migliorato Alba, Aguennouz Mohammed, Mazzeo Anna, Messina Corrado, Vita Giuseppe, Toscano Antonio
Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina, Messina, Italy.
Neuromuscul Disord. 2005 Jun;15(6):409-11. doi: 10.1016/j.nmd.2005.02.008. Epub 2005 Apr 19.
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.
原发性溶酶体相关膜蛋白2（LAMP - 2）缺乏症是一种X连锁疾病，其特征为心肌病、空泡性肌病和智力发育迟缓的临床三联征，以前称为Danon病。迄今为止，已报道约20例lamp - 2基因突变患者，其中1例为意大利人。我们描述了1例新的意大利病例，该患者有持续性高肌酸激酶血症、运动不耐受和肥厚型心肌病，但无肌肉无力或智力损害。肌肉活检显示有空泡性肌病伴轻度糖原储存，免疫组化研究检测到LAMP - 2缺乏。lamp - 2基因第8外显子上的一个新的核苷酸替换（T961C）被确定为导致蛋白质缺乏的原因。这是迄今为止描述的首个错义突变。LAMP - 2缺乏症应被视为复发性高肌酸激酶血症和肥厚型心肌病的一个病因。
