Article

Reconsidering Silent Variant Unveils<i>SGCA</i>’s Role in Atypical Cardiomyopathy

2025-02-12

Abstract excerpt

We investigated an atypical form of limb-girdle muscular dystrophy type R3 (LGMDR3) associated with a homozygous synonymous variant in SGCA that significantly expands the recognized clinical phenotype to include prominent cardiac involvement. While LGMDR3, caused by pathogenic variants in SGCA , typically presents as progressive muscle weakness with relatively limited cardiac manifestations, the individuals in our...

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Literature Corpus work: 7ad3342b-fd70-5b9e-9093-f8124cc71da9
DOI: 10.1101/2025.02.10.25320701

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