A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease-Reference-Cited by-同舟云学术

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

Published:1999-01 Issue:1 Volume:9 Page:34-37
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bruno Claudio,Tamburino Lucia,Kawashima Noriko,Andreu Antonio L.,Shanske Sara,Hadjigeorgiou George M.,Kawashima Atsushi,DiMauro Salvatore

Publisher

Elsevier BV

Subject

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

Reference13 articles.

1. DiMauro S, Servidei S, Tsujino S. Disorders of carbohydrate metabolism: glycogen storage disease. In: The molecular and genetic basis of neurological disease. Third edition. Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, editors. Boston, MA, Butterworth-Heinemann, 1997:201–235.

2. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease);Tsujino;N Engl J Med,1993

3. Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single codon deletion in exon 17 is the predominant mutation;Sugie;Clin Chim Acta,1995

4. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria;Bruno;Neurology,1998

5. Three new mutations in patients with myophosphorylase deficiency (McArdle's disease);Tsujino;Am J Hum Genet,1994

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3. Loss of exon identity is a common mechanism of human inherited disease;Genome Research;2011-07-12

4. Glycogenosis type V or McArdle's disease;Developmental Medicine & Child Neurology;2007-02-13

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