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McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients

A clinical, biochemical, histological and molecular genetic analysis of 60 McArdle patients (33 males and 27 females; mean age at diagnosis: 37 years) was performed. The objective of this study was to identify a possible genotype–phenotype correlation in McArdle disease. All patients complained of e...

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Detalles Bibliográficos
Autores principales: Joshi, Pushpa Raj, Deschauer, Marcus, Zierz, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168270/
https://www.ncbi.nlm.nih.gov/pubmed/32075227
http://dx.doi.org/10.3390/biomedicines8020033