Work

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Year: 2002

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/342380

Authors: Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, Jaakko Sarparanta, Jerome de Seze, Siegfried Labeit, Christian Witt, Leena Peltonen, Isabelle Richard, Bjarne Udd

Institutions: University of Helsinki, Vaasa Central Hospital, Genethon (France), Centre Hospitalier Universitaire de Lille, University of California, Los Angeles

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Maud Kuistilan Muistosäätiö, Suomen Kulttuurirahasto

OpenAlex ID: W2041663954

FWCI: 6.214

Cites: 42

Cited by: 473

Related to: 10