Key result
Novel KCNJ2 G144D mutation linked to Andersen-Tawil syndrome.
Why the study?
Despite well-established clinical and molecular characteristics of Andersen-Tawil syndrome, treatment remains case oriented and timely diagnosis can be delayed due to low incidence and phenotypic heterogeneity.
Population
3 cases of Andersen-Tawil syndrome in 2 families
Design
Case report
Authors
Loading...
Highlights need for timely diagnosis in Andersen-Tawil syndrome; leaves open standardized therapies pending higher-level evidence.
Case Report (n=3)
Identification of a novel KCNJ2 mutation (G144D) expands the genetic spectrum of Andersen-Tawil syndrome and emphasizes the need for cardiac evaluation in children with intermittent muscle weakness.
Lim et al. (2010) conducted a case report in Andersen-Tawil syndrome (n=3). KCNJ2 mutation (G144D) was evaluated. A novel KCNJ2 mutation (G144D) in the pore selectivity filter residue was identified in 3 cases of Andersen-Tawil syndrome across 2 families.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: