0000000001302010
AUTHOR
A. Maciag
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Background LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this …
CCDC 298540: Experimental Crystal Structure Determination
Related Article: M.Makowski, M.Lisowski, A.Maciag, T.Lis|2006|Acta Crystallogr.,Sect.E:Struct.Rep.Online|62|o807|doi:10.1107/S1600536806002273
CCDC 774082: Experimental Crystal Structure Determination
Related Article: M.Makowski, M.Lisowski, A.Maciag, M.Wiktor, A.Szlachcic, T.Lis|2010|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|66|o119|doi:10.1107/S0108270110003094
CCDC 774083: Experimental Crystal Structure Determination
Related Article: M.Makowski, M.Lisowski, A.Maciag, M.Wiktor, A.Szlachcic, T.Lis|2010|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|66|o119|doi:10.1107/S0108270110003094