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Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype–phenotype correlation

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathogenesisGenotype–phenotype CorrelationPathologyMcardle DiseaseDisease Gene IdentificationSouthern FranceMedicineClinical Genetics