Kuhn E, Fiehn W, Seiler D, Schröder J M
Muscle Nerve. 1979 Mar-Apr;2(2):109-17. doi: 10.1002/mus.880020205.
In the last two decades, two genetically distinct forms of myotonia congenita have been identified--an autosomal dominant and an autosomal recessive form. The purpose of this review is to describe the features that enable us to distinguish between these two forms in the absence of sufficient genetic data. Thus far, it can be concluded that the only probable difference between the two forms is in the fatty-acid pattern of muscle phospholipids. Clinical, histologic, ultrastructural, and electromyographic investigation may prove helpful, but they alone cannot provide a reliable means of identifying the genotype in an individual patient.
在过去二十年中，已鉴定出两种基因不同形式的先天性肌强直——常染色体显性和常染色体隐性形式。本综述的目的是描述在缺乏足够基因数据的情况下，使我们能够区分这两种形式的特征。迄今为止，可以得出结论，这两种形式之间唯一可能的差异在于肌肉磷脂的脂肪酸模式。临床、组织学、超微结构和肌电图检查可能会有所帮助，但仅凭这些检查本身并不能提供一种可靠的方法来确定个体患者的基因型。
