Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Eloísa S. Moreira, Tim Wiltshire, Georgine Faulkner et al. · Nature Genetics · 2000 · 334 citations

Medicine, Genetics, Molecular Genetics +13

The NH2 Terminus of Titin Spans the Z-Disc: Its Interaction with a Novel 19-kD Ligand (T-cap) Is Required for Sarcomeric Integrity

Carol C. Gregorio, K Trombitás, Thomas Centner et al. · The Journal of Cell Biology · 1998 · 320 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

Takeharu Hayashi, Takuro Arimura, Manatsu Itoh-Satoh et al. · Journal of the American College of Cardiology · 2004 · 304 citations

Medicine, Cardiology, Genetics +10

Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk

Peijian Zou, Nikos Pinotsis, Stephan Lange et al. · Nature · 2006 · 198 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

Giorgio Valle, Georgine Faulkner, Anna De Antoni et al. · FEBS Letters · 1997 · 189 citations · Full text

Life Sciences, Genetics, Molecular Biology +11