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.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family / 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.. - In: JAMA NEUROLOGY. - ISSN 2168-6149. - 72:6(2015), p. 689-98. [10.1001/jamaneurol.2015.37]

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

DEVOTO, MARCELLA;
2015

Abstract

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.
2015
ACTA1, Scapuloperoneal Myopathy, linkage analysis, exome sequence
01 Pubblicazione su rivista::01a Articolo in rivista
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family / 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.. - In: JAMA NEUROLOGY. - ISSN 2168-6149. - 72:6(2015), p. 689-98. [10.1001/jamaneurol.2015.37]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/788380
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