Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

Seiichi Tsujino; Sara Shanske; James E. Carroll; Richard L. Sabina; Salvatore Dimauro

doi:10.1016/0960-8966(94)00062-E

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

Seiichi Tsujino, Sara Shanske, James E. Carroll, Richard L. Sabina, Salvatore Dimauro

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	263-266
Number of pages	4
Journal	Neuromuscular Disorders
Volume	5
Issue number	4
DOIs	https://doi.org/10.1016/0960-8966(94)00062-E
State	Published - Jul 1995
Externally published	Yes

Keywords

AMP deaminase deficiency
Myophosphorylase deficiency
myoglobinuria
nonsense mutation

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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10.1016/0960-8966(94)00062-E

Cite this

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title = "Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci",

abstract = "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.",

keywords = "AMP deaminase deficiency, Myophosphorylase deficiency, myoglobinuria, nonsense mutation",

author = "Seiichi Tsujino and Sara Shanske and Carroll, {James E.} and Sabina, {Richard L.} and Salvatore Dimauro",

note = "Funding Information: Acknowledgements--This work was supported by National Institute of Health grant NS 11766 and by a grant from the Muscular Dystrophy Association. We thank Dr L.P. Rowland for his useful comments.",

year = "1995",

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doi = "10.1016/0960-8966(94)00062-E",

language = "English (US)",

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pages = "263--266",

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T1 - Double trouble

T2 - Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

AU - Tsujino, Seiichi

AU - Shanske, Sara

AU - Carroll, James E.

AU - Sabina, Richard L.

AU - Dimauro, Salvatore

N1 - Funding Information: Acknowledgements--This work was supported by National Institute of Health grant NS 11766 and by a grant from the Muscular Dystrophy Association. We thank Dr L.P. Rowland for his useful comments.

PY - 1995/7

Y1 - 1995/7

N2 - 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.

AB - 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.

KW - AMP deaminase deficiency

KW - Myophosphorylase deficiency

KW - myoglobinuria

KW - nonsense mutation

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Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

Abstract

Keywords

ASJC Scopus subject areas

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