Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference15 articles.
1. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes;Piluso;J Med Genet,2005
2. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients;Guglieri;Hum Mutat,2008
3. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A;Groen;Brain,2007
4. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A;Richard;Cell,1995
5. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBα/NF-kB pathway in limb-girdle muscular dystrophy type 2A;Baghdiguian;Nat Med,1999
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1. Loss of Calpain 3 dysregulates store‐operated calcium entry and its exercise response in mice;The FASEB Journal;2024-07-19
2. Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice;2024-01-15
3. Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy;Experimental and Therapeutic Medicine;2024-01-11
4. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12
5. Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder;Annals of Molecular and Genetic Medicine;2022-09-27
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