Article
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
Muscle & nerve - 1 Sept 2014
Jaka Oihane, Azpitarte Margarita, Paisán-Ruiz Coro, Zulaika Miren, Casas-Fraile Leire, Sanz Raúl, Trevisiol Nathalie, Levy Nicolas, Bartoli Marc, Krahn Martin, López de Munain Adolfo, Sáenz Amets
Abstract excerpt
Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a typical LGMD2A phenotype and posterior compartment involvement on MRI. Different genetic analyses were performed, including microarray analysis. There was an apparently homozygous mutation in exon 24, c.2465G>T,...
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