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Human Molecular Genetics|November 18, 2011
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature deathAnne T Bertrand, Laure Renou, Aurélie Papadopoulos, et al.Human Molecular Genetics|November 19, 2004
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathiesTakuro Arimura, Anne Helbling-Leclerc, Catherine Massart, et al.European Journal of Human Genetics : EJHG|January 27, 2011
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutationRabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, et al.American Journal of Human Genetics|June 21, 2002
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CGiuseppe Novelli, Antoine Muchir, Federica Sangiuolo, et al.Pageof 5