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Peer-reviewedLicence not statedAmerican Journal of Human Genetics

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

  • Sandra Donkervoort
  • Carl Kutzner
  • Ying Hu
  • Xavière Lornage
  • John Rendu
  • Tanya Stojkovic
  • Jonathan Baets
  • Sarah Neuhaus
  • Jantima Tanboon
  • Reza Maroofian
  • Véronique Bolduc
  • Magdalena Mroczek
35 more authors
  • Stefan Conijn
  • Nancy Kuntz
  • Ana Töpf
  • Soledad Monges
  • Fabiana Lubieniecki
  • Riley Mccarty
  • Katherine 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 Romero
  • Coen Ottenheijm
  • Thorsten Hoppe
  • Carsten Bönnemann
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Cite

BibTeXRIS
BibTeX
@article{donkervoort2026pathogenic,
  title = {{Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores}},
  author = {Sandra Donkervoort and Carl Kutzner and Ying Hu and Xavière Lornage and John Rendu and Tanya Stojkovic and Jonathan Baets and Sarah Neuhaus and Jantima Tanboon and Reza Maroofian and Véronique Bolduc and Magdalena Mroczek and Stefan Conijn and Nancy Kuntz and Ana Töpf and Soledad Monges and Fabiana Lubieniecki and Riley Mccarty and Katherine 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 Romero and Coen Ottenheijm and Thorsten Hoppe and Carsten Bönnemann},
  journal = {American Journal of Human Genetics},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ajhg.2020.11.002},
  url = {https://hal.science/hal-05788948v1},
}
RIS
TY  - JOUR
TI  - Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
AU  - Sandra Donkervoort
AU  - Carl Kutzner
AU  - Ying Hu
AU  - Xavière Lornage
AU  - John Rendu
AU  - Tanya Stojkovic
AU  - Jonathan Baets
AU  - Sarah Neuhaus
AU  - Jantima Tanboon
AU  - Reza Maroofian
AU  - Véronique Bolduc
AU  - Magdalena Mroczek
AU  - Stefan Conijn
AU  - Nancy Kuntz
AU  - Ana Töpf
AU  - Soledad Monges
AU  - Fabiana Lubieniecki
AU  - Riley Mccarty
AU  - Katherine 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 Romero
AU  - Coen Ottenheijm
AU  - Thorsten Hoppe
AU  - Carsten Bönnemann
PY  - 2026
DA  - 2026/10/09
JO  - American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2020.11.002
UR  - https://hal.science/hal-05788948v1
SN  - 0002-9297
SN  - 1537-6605
ER  -