Martín, M. A., Lucia, A., Arenas, J. & Andreu, A. L. Glycogen storage disease type V. in GeneReviews® (eds Adam, M. P. et al.) (University of Washington, 2006).

Urtizberea, J. A., Severa, G. & Malfatti, E. Metabolic myopathies in the era of next-generation sequencing. Genes 14, 954 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Da Silva, J. D. et al. Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V. Pediatr. Res. https://doi.org/10.1038/s41390-023-02943-1 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Reason, S. L. et al. Development of continuum of care for McArdle disease: a practical tool for clinicians and patients. Neuromuscul. Disord. 33, 575–579 (2023).

Article  CAS  PubMed  Google Scholar 

Løkken, N. et al. Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study. Clin. Nutr. 42, 2124–2137 (2023).

Article  PubMed  Google Scholar 

Martín, M. A. et al. Molecular heterogeneity of myophosphorylase deficiency (McArdle’s disease): a genotype-phenotype correlation study. Ann. Neurol. 50, 574–581 (2001).

Article  PubMed  Google Scholar 

Bruno, C. et al. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum. Mutat. 27, 718 (2006).

Article  PubMed  Google Scholar 

Vieitez, I. et al. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul. Disord. 21, 817–823 (2011).

Article  PubMed  Google Scholar 

Lucia, A. et al. Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J. Neurol. Neurosurg. Psychiatry 83, 322–328 (2012).

Article  PubMed  Google Scholar 

Santalla, A. et al. Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC Genomics 18, 819 (2017).

Article  PubMed  PubMed Central  Google Scholar 

Joshi, P. R., Deschauer, M. & Zierz, S. McArdle disease: clinical, biochemical, histological and molecular genetic analysis of 60 patients. Biomedicines 8, 33 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nogales-Gadea, G. et al. McArdle disease: update of reported mutations and polymorphisms in the PYGM gene. Hum. Mutat. 36, 669–678 (2015).

Article  CAS  PubMed  Google Scholar 

García-Consuegra, I. et al. Missense mutations have unexpected consequences: the McArdle disease paradigm. Hum. Mutat. 39, 1338–1343 (2018).

Article  PubMed  Google Scholar 

Carvalho, A. A. S. et al. PYGM mRNA expression in McArdle disease: demographic, clinical, morphological and genetic features. PLoS ONE 15, e0236597 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Martinuzzi, A. et al. Phenotype modulators in myophosphorylase deficiency. Ann. Neurol. 53, 497–502 (2003).

Article  CAS  PubMed  Google Scholar