Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier J F
Service d'anatomie pathologique et de neuropathologie, Département de génétique médicale, Campus Hospitalier et Universitaire de la Timone, Marseille, France.
Neurology. 2003 Aug 26;61(4):562-4. doi: 10.1212/01.wnl.0000076486.57572.5c.
The authors report a 71-year-old woman with limb-girdle muscular dystrophy (LGMD) associated with an R27Q mutation in the CAV3 gene. Immunohistochemistry showed a >90% reduction of caveolin-3 on the sarcolemma by western blot, and anti-dysferlin immunoreactivity was reduced. This case emphasizes that an R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyperCKemia, rippling muscle disease, distal myopathy, and LGMD1C.
作者报告了一名71岁患有肢带型肌营养不良（LGMD）的女性，其与CAV3基因中的R27Q突变相关。免疫组织化学显示，通过蛋白质印迹法检测，肌膜上小窝蛋白-3减少了90%以上，抗肌膜蛋白免疫反应性降低。该病例强调，CAV3基因中的R27Q错义突变可导致多种临床表型，包括高肌酸激酶血症、波纹肌病、远端肌病和LGMD1C。
