Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

@article{Ogrady2016VariantsIT,
  title={Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.},
  author={Gina L O'grady and Heather A Best and Tamar E. Sztal and Vanessa Schartner and Myriam Sanjuan-Vazquez and Sandra Donkervoort and Os{\'o}rio Abath Neto and R Bryan Sutton and Biljana Ilkovski and Norma Beatriz Romero and Tanya Stojkovic and Jahannaz Dastgir and Leigh B. Waddell and Anne Boland and Ying Hu and Caitlin Williams and Avnika A. Ruparelia and Thierry Maisonobe and Anthony J. Peduto and Stephen W R Reddel and Monkol Lek and Taru Tukiainen and Beryl B. Cummings and Himanshu Joshi and Juliette Nectoux and Susan Brammah and Jean-Francois Deleuze and Viola Oorschot Ing and Georg Ramm and Didem Ardicli and Kristen Jean Nowak and Beril Talim and Haluk Topaloğlu and Nigel G Laing and Kathryn N North and Daniel G. MacArthur and Sylvie Friant and Nigel F. Clarke and Robert J. Bryson-Richardson and Carsten G B{\"o}nnemann and Jocelyn Laporte and Sandra T Cooper},
  journal={American journal of human genetics},
  year={2016},
  volume={99 5},
  pages={1086-1105}
}
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated… CONTINUE READING

References

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Please cite this article in press as: O’Grady et al., Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

  • T. E. Sztal, M. Zhao, +7 authors G Ramm
  • erican Journal of Human Genetics
  • 2016

Analysis of protein-coding genetic varia20

  • M. Lek, K. Karczewski, +7 authors B Cummings
  • The American Journal of Human Genetics
  • 2015

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