DOUBLE TROUBLE - COMBINED MYOPHOSPHORYLASE AND AMP-DEAMINASE DEFICIENCY IN A CHILD HOMOZYGOUS FOR NONSENSE MUTATIONS AT BOTH LOCI

被引：35

作者：

TSUJINO, S

SHANSKE, S

CARROLL, JE

SABINA, RL

DIMAURO, S

机构：

[1] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY,DEPT NEUROL,NEW YORK,NY

[2] MED COLL GEORGIA,PEDIAT NEUROL SECT,AUGUSTA,GA 30912

[3] MED COLL WISCONSIN,DEPT CELLULAR BIOL & ANAT,MILWAUKEE,WI 53226

来源：

NEUROMUSCULAR DISORDERS | 1995年 / 5卷 / 04期

关键词：

MYOPHOSPHORYLASE DEFICIENCY; AMP DEAMINASE DEFICIENCY; MYOGLOBINURIA; NONSENSE MUTATION;

D O I：

10.1016/0960-8966(94)00062-E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 2-yr-old boy had congenital hypotonia, limb weakness, exercise intolerance and one episode of myoglobinuria. Histochemical and biochemical analysis of muscle showed a combined defect of phosphorylase and AMP deaminase. DNA analysis showed that the child was homozygous for the mutations commonly found in both McArdle's disease and AMP deaminase deficiency. The father was heterozygous for both mutations. The mother was heterozygous for the myophosphorylase gene mutation and homozygous for the mutation in the AMP deaminase 1 gene.

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页码：263 / 266

页数：4

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