Bruno C, Minetti C, Shanske S, Morreale G, Bado M, Cordone G, DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032, USA.
Neurology. 1998 Jan;50(1):296-8. doi: 10.1212/wnl.50.1.296.
A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 years of age caused acute renal failure. Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deaminase. DNA analysis showed that the patient was homozygous for a G-to-C substitution at codon 39 of the PFK gene (previously described in an Italian patient) and for the common mutation found in AMP deaminase deficiency.
一名患有运动相关肌痛和痉挛的14岁男孩自幼儿期起就有几次肌红蛋白尿发作。2岁时的一次发作导致了急性肾衰竭。肌肉的组织化学和生化分析显示磷酸果糖激酶（PFK）和单磷酸腺苷（AMP）脱氨酶存在联合缺陷。DNA分析表明，该患者PFK基因第39密码子处的G到C替换（先前在一名意大利患者中描述过）以及AMP脱氨酶缺乏中发现的常见突变均为纯合子。
