Sun S F, Streib E W
Muscle Nerve. 1983 Feb;6(2):143-8. doi: 10.1002/mus.880060210.
Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.
两名患有隐性全身性肌强直(RGMy)的近亲结婚的兄弟姐妹及其一级堂亲均患有此病。他们都有肌肉无力的症状,休息后尤为明显,前臂变细,前室肌肉无力,还有肌肉挛缩。这位一级堂亲先天性肌强直症状最为严重。肌肉活检和肌电图检查结果与肌病相符。所有患者休息后运动均显示肌肉膜兴奋性显著降低。