Castro-Gago M, Novo-Rodríguez I, Martínez E P, Iglesias A B, Puñal J E
Departamento de Pediatría, Hospital General de Galicia, Clínico-Universitario, Santiago de Compostela, Spain.
Childs Nerv Syst. 1996 May;12(5):262-5. doi: 10.1007/BF00261807.
An unusual congenital neuromuscular disease characterized by atypically small type II muscle fibers is reported. The patients were a 9-year-old boy and a 3-year-old boy, both of whom showed motor retardation with proximal muscle wasting and hypotonia. Muscle biopsy revealed hypoplastic type II fibers and normal type I fibers. The observed hypoplasia seems to be a primary alteration.
报道了一种罕见的先天性神经肌肉疾病，其特征为II型肌纤维异常细小。患者为一名9岁男孩和一名3岁男孩，二者均表现为运动发育迟缓，伴有近端肌肉萎缩和肌张力减退。肌肉活检显示II型纤维发育不全，I型纤维正常。观察到的发育不全似乎是一种原发性改变。
