Hernández M, Ricoy J R, Santolaya J M, Escudero R
An Esp Pediatr. 1978 Jun-Jul;11(6-7):471-84.
Five cases with type I fiber hypotrophy myopathy from two families are reported. The first two cases belong to the type I fiber hypotrophy and central nuclei. Six cases have already been published. In addition to hypotonia, obvious thoracic anomalies are associated. The three other cases are members of the second sibship and belong to the type I fiber hypotrophy without central nuclei nor myothony and show the typical phenotypic characters: elongated face and adynamic appearance. Out of these three brothers, two show no progress and the other is getting worse slowly. The pathological findings together with the evolutive-clinic pattern of these patient are confronted with those published by other authors and sugestions are made to differentiate these two forms and to establish their relationships with the other types of congenital myopathies, mainly with centronuclear myopathy and congenital fiber type disproportion.
报告了来自两个家族的5例I型纤维萎缩性肌病患者。前两例属于I型纤维萎缩伴中央核。已有6例病例发表。除肌张力减退外，还伴有明显的胸廓异常。另外3例是第二个家族的成员，属于无中央核及肌强直的I型纤维萎缩，表现出典型的表型特征：面部拉长和活动减少的外观。在这三兄弟中，两人病情无进展，另一人病情在缓慢加重。将这些患者的病理结果以及演变-临床模式与其他作者发表的结果进行对比，并提出了区分这两种形式以及确定它们与其他类型先天性肌病（主要是中央核性肌病和先天性纤维类型不均衡）关系的建议。
