Alias Laura, Gallano Pía, Moreno Dolores, Pujol Ramón, Martínez-Matos Juan Antonio, Baiget Montserrat, Ferrer Isidro, Olivé Montse
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006.
Three members of a family were known to have persistent elevated serum CK levels without muscle weakness. A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres, which was confirmed by Western blot analysis. Mutational analysis identified a novel heterozygous mutation: G-->A transition at nucleotide position 169 in exon 2 in the CAV-3 gene, generating a Val-->Met change at codon 57 of the aminoacid chain. This is the second mutation in the CAV-3 gene associated with familial isolated hyperCKaemia.
已知一个家族的三名成员血清肌酸激酶（CK）水平持续升高，但无肌肉无力症状。肌肉活检显示肌纤维肌膜上的小窝蛋白-3部分减少，蛋白质免疫印迹分析证实了这一点。突变分析确定了一个新的杂合突变：CAV-3基因外显子2中核苷酸位置169处的G→A转换，导致氨基酸链第57位密码子处的缬氨酸→甲硫氨酸改变。这是与家族性孤立性高肌酸激酶血症相关的CAV-3基因中的第二个突变。
