Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

Abstract Glycogen storage type V (GSD V—McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al.,...

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Bibliographic Details
Main Authors: Louisa Adams, Arthavan Selvanathan, Kiera J. Batten, Nancy vanDoorn, Susan Thompson, Ashleigh Mitchell, Hugo Sampaio, Troy Dalkeith, Jacqui Russell, Carolyn J. Ellaway, Michelle Farrar, Carolyn Broderick, Kaustuv Bhattacharya
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12389