PMC Articles for MedGen (Select 765974) - PMC - NCBI

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Select item 44614561.

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

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

JAMA Neurol. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: JAMA Neurol. 2015 Jun 1; 72(6): 689–698. doi: 10.1001/jamaneurol.2015.37

Correction in:: JAMA Neurol. 2015 Aug; 72(8): 950.

PMCID:: PMC4461456

Abstract Article PDF–1.7M

Select item 17397282.

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

S Benedetti, E Bertini, S Iannaccone, C Angelini, M Trisciani, D Toniolo, B Sferrazza, P Carrera, G Comi, M Ferrari, A Quattrini, S Previtali

J Neurol Neurosurg Psychiatry. 2005 Jul; 76(7): 1019–1021. doi: 10.1136/jnnp.2004.046110

PMCID:: PMC1739728

Summary PDF–182K

Select item 1691713.

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

Heather M MacLeod, Mary R Culley, Jill M Huber, Elizabeth M McNally

BMC Med Genet. 2003; 4: 4. Published online 2003 Jul 10. doi: 10.1186/1471-2350-4-4

PMCID:: PMC169171

Abstract Article PDF–803K

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