Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort, Carl E. Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic, Jonathan Baets, Sarah B. Neuhaus, Jantima Tanboon, Reza Maroofian, Véronique Bolduc, Magdalena Mroczek, Stefan Conijn, Nancy L. Kuntz, Ana Töpf, Soledad Monges, Fabiana Lubieniecki, Riley M. McCarty, Katherine R. Chao, Serena Governali, Johann Böhm, Kanokwan Boonyapisit, Edoardo Malfatti, Tumtip Sangruchi, Iren Horkayne-Szakaly, Carola Hedberg-Oldfors, Stephanie Efthymiou, Satoru Noguchi, Sarah Djeddi, Aritoshi Iida, Gabriella di Rosa, Chiara Fiorillo, Vincenzo Salpietro, Niklas Darin, Julien Fauré, Henry Houlden, Anders Oldfors, Ichizo Nishino, Willem de Ridder, Volker Straub, Wojciech Pokrzywa, Jocelyn Laporte, A. Reghan Foley, Norma B. Romero, Coen Ottenheijm, Thorsten Hoppe, Carsten G. Bönnemann

Open source

DOI: 10.1016/j.ajhg.2020.11.002
Published: 2020-12
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2020.11.002,
  title = {Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores},
  author = {Sandra Donkervoort and Carl E. Kutzner and Ying Hu and Xavière Lornage and John Rendu and Tanya Stojkovic and Jonathan Baets and Sarah B. Neuhaus and Jantima Tanboon and Reza Maroofian and Véronique Bolduc and Magdalena Mroczek and Stefan Conijn and Nancy L. Kuntz and Ana Töpf and Soledad Monges and Fabiana Lubieniecki and Riley M. McCarty and Katherine R. Chao and Serena Governali and Johann Böhm and Kanokwan Boonyapisit and Edoardo Malfatti and Tumtip Sangruchi and Iren Horkayne-Szakaly and Carola Hedberg-Oldfors and Stephanie Efthymiou and Satoru Noguchi and Sarah Djeddi and Aritoshi Iida and Gabriella di Rosa and Chiara Fiorillo and Vincenzo Salpietro and Niklas Darin and Julien Fauré and Henry Houlden and Anders Oldfors and Ichizo Nishino and Willem de Ridder and Volker Straub and Wojciech Pokrzywa and Jocelyn Laporte and A. Reghan Foley and Norma B. Romero and Coen Ottenheijm and Thorsten Hoppe and Carsten G. Bönnemann},
  year = {2020},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2020.11.002},
  url = {https://doi.org/10.1016/j.ajhg.2020.11.002}
}

RIS

TY  - JOUR
TI  - Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
AU  - Sandra Donkervoort
AU  - Carl E. Kutzner
AU  - Ying Hu
AU  - Xavière Lornage
AU  - John Rendu
AU  - Tanya Stojkovic
AU  - Jonathan Baets
AU  - Sarah B. Neuhaus
AU  - Jantima Tanboon
AU  - Reza Maroofian
AU  - Véronique Bolduc
AU  - Magdalena Mroczek
AU  - Stefan Conijn
AU  - Nancy L. Kuntz
AU  - Ana Töpf
AU  - Soledad Monges
AU  - Fabiana Lubieniecki
AU  - Riley M. McCarty
AU  - Katherine R. Chao
AU  - Serena Governali
AU  - Johann Böhm
AU  - Kanokwan Boonyapisit
AU  - Edoardo Malfatti
AU  - Tumtip Sangruchi
AU  - Iren Horkayne-Szakaly
AU  - Carola Hedberg-Oldfors
AU  - Stephanie Efthymiou
AU  - Satoru Noguchi
AU  - Sarah Djeddi
AU  - Aritoshi Iida
AU  - Gabriella di Rosa
AU  - Chiara Fiorillo
AU  - Vincenzo Salpietro
AU  - Niklas Darin
AU  - Julien Fauré
AU  - Henry Houlden
AU  - Anders Oldfors
AU  - Ichizo Nishino
AU  - Willem de Ridder
AU  - Volker Straub
AU  - Wojciech Pokrzywa
AU  - Jocelyn Laporte
AU  - A. Reghan Foley
AU  - Norma B. Romero
AU  - Coen Ottenheijm
AU  - Thorsten Hoppe
AU  - Carsten G. Bönnemann
PY  - 2020
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2020.11.002
UR  - https://doi.org/10.1016/j.ajhg.2020.11.002
ER  -

APA

Donkervoort, S., Kutzner, C. E., Hu, Y., Lornage, X., Rendu, J., Stojkovic, T., Baets, J., Neuhaus, S. B., Tanboon, J., Maroofian, R., Bolduc, V., Mroczek, M., Conijn, S., Kuntz, N. L., Töpf, A., Monges, S., Lubieniecki, F., McCarty, R. M., Chao, K. R., Governali, S., Böhm, J., Boonyapisit, K., Malfatti, E., Sangruchi, T., Horkayne-Szakaly, I., Hedberg-Oldfors, C., Efthymiou, S., Noguchi, S., Djeddi, S., Iida, A., Rosa, G. D., Fiorillo, C., Salpietro, V., Darin, N., Fauré, J., Houlden, H., Oldfors, A., Nishino, I., Ridder, W. D., Straub, V., Pokrzywa, W., Laporte, J., Foley, A. R., Romero, N. B., Ottenheijm, C., Hoppe, T., & Bönnemann, C. G. (2020). Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2020.11.002

Source records

crossref · retrieved 2026-09-26T03:24:05.848Z