Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

被引：21

作者：

Bruno, C

Minetti, C

Shanske, S

Morreale, G

Bado, M

Cordone, G

DiMauro, S

机构：

[1] Columbia Presbyterian Med Ctr, Coll Phys & Surg, H Houston Merritt Clin Res Ctr Muscular Dystrophy, Dept Neurol, New York, NY 10032 USA

[2] Univ Genoa, Gaslini Childrens Hosp, Muscle Dis Serv, Genoa, Italy

来源：

NEUROLOGY | 1998年 / 50卷 / 01期

关键词：

D O I：

10.1212/WNL.50.1.296

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：296 / 298

页数：3

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