Associated Papers
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.
Iacono S et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022
Molecular diagnosis of McArdle disease using whole-exome sequencing.
Kang JH et al.
Experimental and Therapeutic Medicine, 2021
Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
Danti FR et al.
Frontiers in Neurology, 2021
Spondyloarthropathy associated with glycogen storage disease type V mimicking polymyositis.
Horino T et al.
Qjm : Monthly Journal of the Association of Physicians, 2019
A High Creatine Kinase Concentration Might Be a Sign of McArdle Disease in Patient With Type 1 Diabetes.
Ugur K et al.
Biochemistry Insights, 2019
Clinical utility gene card for McArdle disease.
Taylor RL et al.
European Journal of Human Genetics : Ejhg, 2018
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G et al.
Neuromuscular Disorders : Nmd, 2017
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
Nogales-Gadea G et al.
Journal of Inherited Metabolic Disease, 2015
The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.
Park HJ et al.
Journal of Korean Medical Science, 2014
McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Haimi Cohen Y et al.
Molecular Genetics and Metabolism, 2012
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
Wu Y et al.
Molecular Genetics and Metabolism, 2011
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Duno M et al.
Annals of Human Genetics, 2009
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
García-Consuegra I et al.
Journal of Medical Genetics, 2009
McArdle disease: molecular genetic update.
Andreu AL et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Deschauer M et al.
Journal of Neurology, 2007
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
Molecular genetics of McArdle's disease.
Nogales-Gadea G et al.
Current Neurology and Neuroscience Reports, 2007
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
Martín MA et al.
Annals of Human Genetics, 2004
[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].
Fernandez-Cadenas I et al.
Revista De Neurologia, 0