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, K., Meilleur, K., Traynor, B.J., Dastgir, J., Medne, L., Devoto, M., Collins, J., Rooney, J., Zou, Y., Yang, M.L., Gibbs, J.R., Meier, M., Stetefeld, J., Finkel, R.S., Schessl, J., Elman, L., Felice, K., Ferguson, T.A., Ceyhan Birsoy, O., Beggs, A.H., et al.. - 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.| File | Dimensione | Formato | |
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