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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Bibliographic Details
Main Authors: Jon Andoni Urtizberea, Gianmarco Severa, Edoardo Malfatti
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/14/5/954