Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clin GenetJul 15, 2026 (epub)
Case ReportMedical Genetics

Lauren Kerr, Pierre Moffatt, Lauren Hyer et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Arthrogryposis multiplex congenita (AMC) is a group of conditions with congenital joint contractures in at least two body regions. ACTC1 variants cause heart disorders but have also been reported in six families with AMC. We report on two individuals with AMC who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr).

Source

PubMed · PMID 42458772

Published in Clin Genet. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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