Article

Comprehensive Mapping of <i>SGCA</i> Variant Effects Reveals Domain-Specific Constraints Relevant to Sarcoglycanopathies

2026-07-26

Abstract excerpt

Pathogenic variants in SGCA , encoding α-sarcoglycan, cause an autosomal recessive limb-girdle muscular dystrophy, LGMDR3/2D, yet clinical interpretation of SGCA variants remains challenging due to the high prevalence of rare missense variants. α-sarcoglycan is an essential component of the sarcoglycan complex at the muscle cell membrane, and pathogenic variants frequently impair its membrane localization. Here,...

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Literature Corpus work: e4d5a070-0c4f-53e0-911e-3d7e115437a8
DOI: 10.64898/2026.07.22.740214

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