PYROXD1 -associated myopathy
PYROXD1 -associated myopathy
About this item
Full title
Author / Creator
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of
in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over...
Alternative Titles
Full title
PYROXD1 -associated myopathy
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3022569306
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3022569306
Other Identifiers
ISSN
1757-790X
E-ISSN
1757-790X
DOI
10.1136/bcr-2024-259907
