Lovaste M G, Aldovini D, Ferrari G
Eur Neurol. 1987;26(3):153-60. doi: 10.1159/000116328.
The authors describe two cases of familial muscle disease, a mother and her daughter, characterized by centrally placed nuclei and a predominance of hypotrophic type 1 fibers. Clinically the patients exhibited a muscular weakness and atrophy localized mainly distally. Both showed hypertrophy of their calves. The nosological classification of the cases is uncertain; however, both are considered as examples of centronuclear myopathy with unusual clinical features.
作者描述了两例家族性肌肉疾病，患者为一对母女，其特征为细胞核位于中央，且以萎缩的1型纤维为主。临床上，患者表现出主要局限于远端的肌无力和萎缩。两人均有小腿肥大。这些病例的疾病分类尚不确定；然而，两者均被视为具有不寻常临床特征的中央核性肌病的例子。
