STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility-Reference-Cited by-同舟云学术

STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Published:2018-10-11 Issue:12 Volume:39 Page:1980-1994
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zaharieva Irina T.¹^ORCID,Sarkozy Anna¹²,Munot Pinki¹²,Manzur Adnan¹²,O'Grady Gina³⁴,Rendu John⁵,Malfatti Eduardo⁶,Amthor Helge⁷⁸,Servais Laurent⁹,Urtizberea J. Andoni¹⁰,Neto Osorio Abath¹¹¹²,Zanoteli Edmar¹¹,Donkervoort Sandra¹²,Taylor Juliet¹³,Dixon Joanne¹⁴,Poke Gemma¹⁵,Foley A. Reghan¹²,Holmes Chris²,Williams Glyn²,Holder Muriel¹⁶,Yum Sabrina¹⁷,Medne Livija¹⁸,Quijano-Roy Susana⁸¹⁹,Romero Norma B.⁶,Fauré Julien⁵,Feng Lucy¹,Bastaki Laila²⁰,Davis Mark R.²¹,Phadke Rahul¹²,Sewry Caroline A.¹²²,Bönnemann Carsten G.¹²,Jungbluth Heinz²³²⁴²⁵,Bachmann Christoph²⁵,Treves Susan²⁵²⁶,Muntoni Francesco¹²²⁷

Affiliation:

1. Dubowitz Neuromuscular Centre; UCL Great Ormond Street Institute of Child Health; London UK

2. Great Ormond Street Hospital; London UK

3. Institute of Neuroscience and Muscle Research; Children's Hospital at Westmead; Sydney New South Wales Australia

4. Discipline of Paediatrics and Child Health Clinical School; University of Sydney; Sydney New South Wales Australia

5. UFR de Médecine; Centre Hospitalier Universitaire Grenoble Alpes; Université Grenoble Alpes; Grenoble France

6. Neuromuscular Morphology Unit and Neuromuscular Pathology Reference Center Paris-Est; Center for Research in Myology; Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Paris France

7. UFR des sciences de la santé; Versailles Saint-Quentin-en-Yvelines University; Montigny-le-Bretonneux France

8. Service de Pédiatrie; Centre Hospitalier Universitaire Raymond Poincaré; Garches France

9. Institut I-Motion; Hôpital Armand Trousseau; Paris France

10. Centre de Compétence Neuromusculaire, FILNEMUS; Hôpital Marin; Hendaye France

11. Departamento de Neurologia; Faculdade de Medicina da Universidade de São Paulo (FMUSP); São Paulo Brazil

12. Neuromuscular and Neurogenetic Disorders of Childhood Section; National Institutes of Health; Bethesda Maryland USA

13. Genetic Health Service New Zealand; Auckland New Zealand

14. Genetic Health Service New Zealand; Christchurch New Zealand

15. Genetic Health Service New Zealand; Wellington New Zealand

16. Department of Clinical Genetics; Guy's Hospital; London UK

17. Division of Neurology; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

18. Division of Human Genetics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

19. Centre de Référence Neuromusculaire GNMH, FILNEMUS; Université de Versailles; Versailles France

20. Kuwait Medical Genetics Centre; Maternity Hospital; Kuwait City Kuwait

21. Department of Diagnostic Genomics; Pathwest Laboratory Medicine; QEII Medical Centre; Nedlands Western Australia Australia

22. Wolfson Centre for Inherited Neuromuscular Diseases; RJAH Orthopaedic Hospital; Oswestry UK

23. Randall Division for Cell and Molecular Biophysics; Muscle Signaling Section; King's College London; London UK

24. Department of Basic and Clinical Neuroscience; IoPPN; King's College London; London UK

25. Department of Anesthesia and Biomedicine; University Hospital Basel; Basel Switzerland

26. Department of Life Sciences; University of Ferrara; Ferrara Italy

27. NIHR Great Ormond Street Hospital Biomedical Research Centre; London UK

Funder

NeRAB Association

FP7 Health

NIHR Great Ormond Street Hospital Biomedical Research Centre

Horizon 2020 Framework Programme

National Institute for Neurological Disorders and Stroke/NIH

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

OPO Stiftung

Muscular Dystrophy Association

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23635/fullpdf

Reference34 articles.

1. Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations;Bachmann;Human Molecular Genetics,2017

2. Stac3 is required for myotube formation and myogenic differentiation in vertebrate skeletal muscle;Bower;Journal of Biological Chemistry,2012

3. STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads;Campiglio;Scientific Reports,2017

4. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors;Censier;Journal of Clinical Investigation,1998

5. Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice;Cong;Scientific Reports,2016

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