Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

doi:10.3390/genes11020129

Article

Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

Genes - 25 Jan 2020

Landires Iván, Núñez-Samudio Virginia, Fernandez Julián, Sarria Cesar, Villareal Víctor, Córdoba Fernando, Apráez-Ippolito Giovanni, Martínez Samuel, Vidal Oscar M, Vélez Jorge I, Arcos-Holzinger Mauricio, Landires Sergio, Arcos-Burgos Mauricio

Abstract excerpt

Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene (CAPN3) (NM_000070.2; NP_000061.1) (g.409_412del). The mutation site occurs...

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Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

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