Martin J J, Ceuterick C, Joris C, Martens C
Acta Neurol Belg. 1977 Sep-Oct;77(5):285-99.
Three cases of centronuclear myopathy are reported in a sibship. The disease starts during the late childhood and has a very slow progressive course. Clinical examination reveals a ptosis of the eyelids, a weakness of the facial muscles, a high-arched palate and a diffuse involvement of the lower extremities. The respiratory muscles are involved in the two oldest siblings. Combined morphological studies of the tibialis anterior muscle in one patient demonstrate the following features: 1. the presence of small type I fibres and of large type I or type II fibres; 2. a predominance of type I fibers which represent 86% of the total amount of muscle fibres; 3. central nuclei in about 98% of the muscle fibres; 4. moderate ultrastructural changes. All these features are compared with the relevant data of the literature.
本文报道了一个家族中的三例中央核性肌病病例。该病始于儿童晚期，病程进展非常缓慢。临床检查发现眼睑下垂、面部肌肉无力、高拱腭以及下肢广泛受累。呼吸肌在年龄最大的两个兄弟姐妹中受累。对一名患者的胫前肌进行的联合形态学研究显示出以下特征：1. 存在小型I型纤维和大型I型或II型纤维；2. I型纤维占优势，占肌肉纤维总量的86%；3. 约98%的肌肉纤维中有中央核；4. 中度超微结构改变。所有这些特征均与文献中的相关数据进行了比较。
