Cordone G, Bado M, Morreale G, Pedemonte M, Minetti C
Clinica Pediatrica, Istituto G. Gaslini, Università di Genova, Italy.
Childs Nerv Syst. 1996 Aug;12(8):466-9. doi: 10.1007/BF00261626.
We studied a 2-year-old child with congenital hypotonia and proximal muscle weakness. There was no family history of neuromuscular disease. The child also had hypospadia. The central nervous system was apparently not involved. Muscle biopsy showed a dystrophic pattern and dystrophin was absent as shown by immunofluorescence and by Western blot. Vinculin and spectrin were also reduced, while merosin was normal in muscle fibers. This observation suggests that congenital hypotonia may be associated with a severe form of dystrophinopathy.
我们研究了一名患有先天性肌张力减退和近端肌无力的2岁儿童。该儿童没有神经肌肉疾病家族史。此外，该儿童还患有尿道下裂。中枢神经系统显然未受累。肌肉活检显示为营养不良模式，免疫荧光和蛋白质免疫印迹显示肌营养不良蛋白缺失。纽蛋白和血影蛋白也减少，而肌纤维中的巢蛋白正常。这一观察结果表明，先天性肌张力减退可能与严重形式的肌营养不良蛋白病有关。
