McArdle disease: a clinical review
McArdle disease: a clinical review
About this item
Full title
Author / Creator
Quinlivan, R , Buckley, J , James, M , Twist, A , Ball, S , Duno, M , Vissing, J , Bruno, C , Cassandrini, D , Roberts, M , Winer, J , Rose, M and Sewry, C
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
MethodsThe clinical phenotype of 45 genetically confirmed McArdle patients is described.ResultsIn the majority of patients (84%), the onset of symptoms was from early childhood but diagnosis was frequently delayed until after 30 years of age. Not all patients could recognise a second wind although it was always seen with exercise assessment. A hist...
Alternative Titles
Full title
McArdle disease: a clinical review
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_00578727v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00578727v1
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp.2009.195040
