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Metabolic Myopathies in the Era of Next-Generation Sequencing

Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are now better-known. In general the pathophysiolo...

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Detalles Bibliográficos
Autores principales:	Urtizberea, Jon Andoni, Severa, Gianmarco, Malfatti, Edoardo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217901/ https://www.ncbi.nlm.nih.gov/pubmed/37239314 http://dx.doi.org/10.3390/genes14050954

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