Byrne E, Blumbergs P C, Hallpike J F
J Neurol Sci. 1982 Jan;53(1):77-83. doi: 10.1016/0022-510x(82)90081-8.
A family is described in which at least 37 members in five generations living in Australia have suffered from a rare congenital myopathy--central core disease (CCD). Histochemical and ultrastructural features typical of CCD were present on muscle biopsy. Although there are variations in clinical expression, a relatively benign and nonprogressive course is usual. Inheritance of CCD in this family conforms to an autosomal dominant pattern with a high degree of penetrance.
本文描述了一个家族，该家族五代中至少有37名居住在澳大利亚的成员患有罕见的先天性肌病——中央轴空病（CCD）。肌肉活检显示出CCD典型的组织化学和超微结构特征。尽管临床表现存在差异，但通常病程相对良性且无进展。这个家族中CCD的遗传符合常染色体显性模式，且具有高度的外显率。
