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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Year of publication

2024

Authors

Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara
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Organizations and authors

University of Helsinki

Vihola Anna

Udd Bjarne

Sarparanta Jaakko

Savarese Marco

Jonson Per Harald

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

Nature Genetics

Parent publication name

Nature Genetics

Volume

56

Issue

3

Pages

395-407

ISSN

1061-4036

​Publication forum

63767

​Publication forum level

3

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

Genetics, developmental biology, physiology

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1038/s41588-023-01651-0

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes