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Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy

2024-12-18

Abstract excerpt

<title>Abstract</title> <p>Background Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, <italic>SGCA</italic>, <italic>SGCB</italic>, <italic>SGCG</italic>, and <italic>SGCD</italic>, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants th...

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Literature Corpus work: 90ac717b-8ddb-507f-bd93-b5e558520c0f
DOI: 10.21203/rs.3.rs-4146610/v1

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