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Article

Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice.

Scientific reports - 10 Jan 2023

Bargiela Ariadna, Ten-Esteve Amadeo, Martí-Bonmatí Luis, Sevilla Teresa, Perez Alonso Manuel, Artero Ruben

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a severe autosomal dominant neuromuscular disease in which the musculoskeletal system contributes substantially to overall mortality and morbidity. DM1 stems from a noncoding CTG trinucleotide repeat expansion in the DMPK gene. The human skeletal actin long repeat (HSALR) mouse model reproduces several aspects of the disease, but the muscle-wasting phenotype of this model has...

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Identifiers

PMID: 36627397
DOI: 10.1038/s41598-023-27661-w
PMCID: PMC9831979

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