A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target
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DOI: 10.1126/sciadv.ads7903
Abstract: Mutations in LMNA cause multiple types of muscular dystrophy (LMNA-MD). The symptoms of LMNA-MD are highly variable and sensitive to genetic background. To identify genetic contributions to this phenotypic variability, we performed whole-genome sequencing on… read more here.
Keywords: variant smad7; muscle; modifier lmna; muscular dystrophy ... See more keywords