Zellweger H, Pavone L, Biondi A, Cimino V, Gullotta F, Hart M, Ionasescu V, Mollica F, Schieken R
Muscle Nerve. 1980 Mar-Apr;3(2):176-80. doi: 10.1002/mus.880030212.
Four cases of autosomal recessive generalized myotonia are reported. Attention is drawn to the fact that this condition represents a disease entity distinct from the myotonia congenita of Thomsen, which is transmitted as an autosomal dominant trait. The clinical features of the two conditions are similar, apart from minor quantitative differences. The family history is the major tool for the differential diagnosis. The possibility of the detection of heterozygotes by electromyography is discussed.
报告了4例常染色体隐性遗传性全身性肌强直病例。需注意的是，这种病症是一种与汤姆森先天性肌强直不同的疾病实体，后者以常染色体显性性状遗传。除了微小的数量差异外，这两种病症的临床特征相似。家族病史是鉴别诊断的主要依据。文中讨论了通过肌电图检测杂合子的可能性。
