A Novel Nonsense Mutation (R269X) in the Myophosphorylase Gene in a Patient with McArdle Disease
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference17 articles.
1. Myopathy due to a defect in muscle glycogen breakdown;McArdle;Clin Sci,1951
2. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase;Burke;Proteins,1987
3. Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease;Martin;Clin Genet,2001
4. Mutation analysis in myophosphorylase deficiency (McArdle's disease);Vorgerd;Ann Neurol,1998
5. Acute compartment syndrome after forarm ischemic work test in a patient with McArdle's disease;Lindner;Neurology,2001
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1. Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease;Neuromuscular Disorders;2017-11
2. McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene;Human Mutation;2015-06-03
3. Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V;European Journal of Neurology;2015-03-05
4. High-resolution Melting Facilitates Mutation Screening ofPYGMin Patients with McArdle Disease;Annals of Human Genetics;2009-05
5. Analysis of spectrum and frequencies of mutations in McArdle disease;Journal of Neurology;2007-04-03
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