Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy - Archive ouverte HAL
Journal Articles Nature Genetics Year : 2024

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

Ana Töpf (1) , Dan Cox (1) , Irina T. Zaharieva , Valeria Di Leo (1) , Jaakko Sarparanta , Per Harald Jonson , Ian M. Sealy , Andrei Smolnikov , Richard J. White , Anna Vihola , Marco Savarese , Munise Merteroglu , Neha Wali , Kristen M. Laricchia , Cristina Venturini , Bas Vroling , Sarah L. Stenton , Beryl B. Cummings , Elizabeth Harris , Chiara Marini-Bettolo , Jordi Diaz-Manera , Matt Henderson , Rita Barresi , Jennifer Duff , Eleina M. England , Jane Patrick , Sundos Al-Husayni , Valérie Biancalana (2) , Alan H. Beggs , Istvan Bodi , Shobhana Bommireddipalli , Carsten G. Bönnemann , Anita Cairns , Mei-Ting Chiew , Kristl G. Claeys , Sandra T. Cooper , Mark R. Davis , Sandra Donkervoort , Corrie E. Erasmus , Mahmoud R. Fassad , Casie A. Genetti , Carla Grosmann , Heinz Jungbluth , Erik-Jan Kamsteeg , Xavière Lornage (2) , Wolfgang N. Löscher , Edoardo Malfatti , Adnan Manzur , Pilar Martí , Tiziana E. Mongini , Nuria Muelas , Atsuko Nishikawa , Anne O’donnell-Luria , Narumi Ogonuki , Gina L. O’grady , Emily O’heir , Stéphanie Paquay , Rahul Phadke , Beth A. Pletcher , Norma B. Romero , Meyke Schouten , Snehal Shah , Izelle Smuts , Yves Sznajer , Giorgio Tasca , Robert W. Taylor , Allysa Tuite , Peter van den Bergh , Grace Vannoy , Nicol C. Voermans , Julia V. Wanschitz , Elizabeth Wraige , Kimihiko Yoshimura , Emily C. Oates , Osamu Nakagawa , Ichizo Nishino , Jocelyn Laporte (2) , Juan J. Vilchez , Daniel G. Macarthur , Anna Sarkozy , Heather J. Cordell , Bjarne Udd , Elisabeth M. Busch-Nentwich , Francesco Muntoni , Volker Straub
Irina T. Zaharieva
  • Function : Author
Jaakko Sarparanta
  • Function : Author
Per Harald Jonson
  • Function : Author
Ian M. Sealy
  • Function : Author
Andrei Smolnikov
  • Function : Author
Richard J. White
  • Function : Author
Anna Vihola
  • Function : Author
Marco Savarese
  • Function : Author
Munise Merteroglu
  • Function : Author
Neha Wali
  • Function : Author
Kristen M. Laricchia
  • Function : Author
Cristina Venturini
  • Function : Author
Bas Vroling
  • Function : Author
Sarah L. Stenton
  • Function : Author
Beryl B. Cummings
  • Function : Author
Elizabeth Harris
  • Function : Author
Chiara Marini-Bettolo
  • Function : Author
Jordi Diaz-Manera
  • Function : Author
Matt Henderson
  • Function : Author
Rita Barresi
  • Function : Author
Jennifer Duff
  • Function : Author
Eleina M. England
  • Function : Author
Jane Patrick
  • Function : Author
Sundos Al-Husayni
  • Function : Author
Alan H. Beggs
  • Function : Author
Istvan Bodi
  • Function : Author
Shobhana Bommireddipalli
  • Function : Author
Carsten G. Bönnemann
  • Function : Author
Anita Cairns
  • Function : Author
Mei-Ting Chiew
  • Function : Author
Kristl G. Claeys
  • Function : Author
Sandra T. Cooper
  • Function : Author
Mark R. Davis
  • Function : Author
Sandra Donkervoort
  • Function : Author
Corrie E. Erasmus
  • Function : Author
Mahmoud R. Fassad
  • Function : Author
Casie A. Genetti
  • Function : Author
Carla Grosmann
  • Function : Author
Heinz Jungbluth
  • Function : Author
Erik-Jan Kamsteeg
  • Function : Author
Wolfgang N. Löscher
  • Function : Author
Edoardo Malfatti
  • Function : Author
Adnan Manzur
  • Function : Author
Pilar Martí
  • Function : Author
Tiziana E. Mongini
  • Function : Author
Nuria Muelas
  • Function : Author
Atsuko Nishikawa
  • Function : Author
Anne O’donnell-Luria
  • Function : Author
Narumi Ogonuki
  • Function : Author
Gina L. O’grady
  • Function : Author
Emily O’heir
  • Function : Author
Stéphanie Paquay
  • Function : Author
Rahul Phadke
  • Function : Author
Beth A. Pletcher
  • Function : Author
Norma B. Romero
  • Function : Author
Meyke Schouten
  • Function : Author
Snehal Shah
  • Function : Author
Izelle Smuts
  • Function : Author
Yves Sznajer
  • Function : Author
Giorgio Tasca
  • Function : Author
Robert W. Taylor
  • Function : Author
Allysa Tuite
  • Function : Author
Peter van den Bergh
  • Function : Author
Grace Vannoy
  • Function : Author
Nicol C. Voermans
  • Function : Author
Julia V. Wanschitz
  • Function : Author
Elizabeth Wraige
  • Function : Author
Kimihiko Yoshimura
  • Function : Author
Emily C. Oates
  • Function : Author
Osamu Nakagawa
  • Function : Author
Ichizo Nishino
  • Function : Author
Juan J. Vilchez
  • Function : Author
Daniel G. Macarthur
  • Function : Author
Anna Sarkozy
  • Function : Author
Heather J. Cordell
  • Function : Author
Bjarne Udd
  • Function : Author
Elisabeth M. Busch-Nentwich
  • Function : Author
Francesco Muntoni
  • Function : Author
Volker Straub
  • Function : Author

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Genetics
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hal-04699537 , version 1 (16-09-2024)

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Ana Töpf, Dan Cox, Irina T. Zaharieva, Valeria Di Leo, Jaakko Sarparanta, et al.. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics, 2024, 56 (3), pp.395-407. ⟨10.1038/s41588-023-01651-0⟩. ⟨hal-04699537⟩
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