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- Title
Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene.
- Authors
Shen, J Y; Prasad, K; Goh, L L; Angkodjojo, S; Khoo, C Y; Umapathi, T
- Abstract
(c) IHC demonstrating dysferlin deficiency in patient's muscle biopsy. Multiplex ligation-dependent probe amplification (MLPA) did not detect deletions or duplications in the dysferlin (DYSF) gene. Learning points for clinicians Dysferlinopathy may rarely be associated with cardiomyopathy and cardiac evaluation should be considered in these patients.
- Subjects
FACIOSCAPULOHUMERAL muscular dystrophy; GENETIC mutation; CARDIAC magnetic resonance imaging; LIMB-girdle muscular dystrophy; MOTOR unit
- Publication
QJM: An International Journal of Medicine, 2023, Vol 116, Issue 6, p453
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad003