αB-crystallin mutation in dilated cardiomyopathy

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies

Peter Richardson, William J. McKenna, Michael R. Bristow et al. · Circulation · 1996 · 3.4K citations

Cardiac Muscle, Cardiomyopathy, Heart Failure +10

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Diane Fatkin, Calum A. MacRae, Takeshi Sasaki et al. · New England Journal of Medicine · 1999 · 1.3K citations · Full text

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Genetic Disorder, Genetics, Missense Mutation +6

The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy

Ralph Knöll, Masahiko Hoshijima, Hal M. Hoffman et al. · Cell · 2002 · 785 citations · Full text

Mechanobiology, Cardiac Muscle, Cardiomyopathy +13

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 748 citations

Mendelian Disorder, Genetic Disorder, Genetics +6