Khan Muhammad W, Raza Syed Ali, Raza Madiha, Rogers Eli, Riel-Romero Rosario Maria S
Neurology, University of Rochester, Rochester, USA.
Neurology, Louisiana State University Health Sciences Center, Shreveport, USA.
Cureus. 2023 Feb 6;15(2):e34704. doi: 10.7759/cureus.34704. eCollection 2023 Feb.
Inherited muscular abnormalities are debilitating disorders that greatly diminish the quality of life in affected individuals. Mutations in proteins such as dystrophin and caveolin, which together with other proteins form structural connections between the cytoskeleton and the extracellular matrix, are frequently the culprit of muscular dystrophies. In this case report, we describe a patient with a novel pathogenic dystrophin mutation co-existing with a caveolin-3 deletion. While genetically composed of this unique combination, the patient phenotypically presented with a primary clinical manifestation of Duchenne muscular dystrophy (DMD) in contrast to other cases of dual mutations in dystrophin and dystrophin-associated proteins.
遗传性肌肉异常是使人衰弱的疾病，会极大地降低受影响个体的生活质量。诸如肌营养不良蛋白和小窝蛋白等蛋白质发生突变，这些蛋白质与其他蛋白质一起在细胞骨架和细胞外基质之间形成结构连接，它们常常是肌肉萎缩症的病因。在本病例报告中，我们描述了一名患有新型致病性肌营养不良蛋白突变并伴有小窝蛋白-3缺失的患者。虽然该患者的基因构成是这种独特的组合，但与肌营养不良蛋白和肌营养不良蛋白相关蛋白双重突变的其他病例相比，其表型上主要表现为杜氏肌营养不良症（DMD）。
