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Article

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

JAMA neurology - 1 Jun 2015

Zukosky Kristen, Meilleur Katherine, Traynor Bryan J, Dastgir Jahannaz, Medne Livija, Devoto Marcella, Collins James, Rooney Jachinta, Zou Yaqun, Yang Michele L, Gibbs J Raphael, Meier Markus, Stetefeld Joerg, Finkel Richard S, Schessl Joachim, Elman Lauren, Felice Kevin, Ferguson Toby A, Ceyhan-Birsoy Ozge, Beggs Alan H, Tennekoon Gihan, Johnson Janel O, Bönnemann Carsten G

Abstract excerpt

IMPORTANCE: New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene. OBJECTIVE:...

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Source

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Identifiers

PMID: 25938801
DOI: 10.1001/jamaneurol.2015.37
PMCID: PMC4461456

Genes

ACTA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25938801-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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