Mercelis R, Martin J J, Dehaene I, de Barsy T, Van den Berghe G
J Neurol. 1981;225(3):157-66. doi: 10.1007/BF00313744.
Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase deficiency. Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain.
通过组织化学和生物化学方法，在一名患有面肩肱型肌病的25岁女性的肌肉活检中证实了缺乏AMP脱氨酶。缺血运动后静脉血氨未升高。该患者进一步丰富了与AMP脱氨酶缺乏相关的临床症状谱。虽然已证明AMP脱氨酶在肝脏腺嘌呤核苷酸代谢调节中起重要作用，但其在肌肉中的生理功能仍不确定。
