2827 Reduced calpain expression in a patient with fascioscapulohumeral muscular dystrophy
2827 Reduced calpain expression in a patient with fascioscapulohumeral muscular dystrophy
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London: BMJ Publishing Group Ltd
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English
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London: BMJ Publishing Group Ltd
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BackgroundLimb girdle muscular dystrophies (LGMD) show phenotypic and genotypic variability. Autosomal recessive calpainopathies (LGMD R1) can mimic fascioscapulohumeral dystrophy (FSHD) and is an important differential in patients with a scapuloperoneal syndrome. Western blot can identify reduced calpain expression on muscle biopsy, but this may b...
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Full title
2827 Reduced calpain expression in a patient with fascioscapulohumeral muscular dystrophy
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TN_cdi_proquest_journals_2921104551
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2921104551
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E-ISSN
2632-6140
DOI
10.1136/bmjno-2023-ANZAN.166
