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Abstract
Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive condition characterized by progressive proximal weakness in adolescents and young adults. This condition is caused by mutation in theCAPN3 gene that encodes for calpain-3, a muscle-specific protein that is involved in sarcomere remodeling. Diagnosis is made by genetic testing and can be supplemented by muscle biopsy. Treatment is supportive.
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Authors and Affiliations
Department of Neurology & Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA
Rahul Abhyankar & Jaya R. Trivedi
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
- Rahul Abhyankar
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- Chunyu Cai
Search author on:PubMed Google Scholar
- Jaya R. Trivedi
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Correspondence toJaya R. Trivedi.
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Editors and Affiliations
Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA
Dennis K. Burns
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
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Abhyankar, R., Cai, C., Trivedi, J.R. (2020). A 28-Year-Old Woman with Proximal Limb Weakness and Scapular Winging. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_11
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