A novel PYGM mutation in a Korean patient with McArdle disease: The role of nonsense-mediated mRNA decay-Reference-Cited by-同舟云学术

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A novel PYGM mutation in a Korean patient with McArdle disease: The role of nonsense-mediated mRNA decay

Published:2008-11 Issue:11 Volume:18 Page:886-889
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Sohn Eun Hee,Kim Hyang-Sook,Lee Ae Young,Fukuda Tokiko,Sugie Hideo,Kim Dae-Seong

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Myophosphorylase deficiency (glycogenosis type V; McArdle disease);Dimauro;Curr Mol Med,2002

2. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle’s syndrome to chromosome 11;Lebo;Science,1984

3. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle’s disease);Tsujino;N Engl J Med,1993

4. McArdle disease: molecular genetic update;Andreu;Acta Myol,2007

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

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1. Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium;Journal of Biological Chemistry;2024-08

2. 211th ENMC International Workshop:;Neuromuscular Disorders;2017-12

3. Genes and exercise intolerance: insights from McArdle disease;Physiological Genomics;2016-02

4. McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene;Human Mutation;2015-06-03

5. The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications;Journal of Inherited Metabolic Disease;2014-07-23

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