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A New family with Congenital Myasthenic Syndrome Caused by Compound Heterozygous CHAT Mutations

Author

Listed:
  • Maria Tofilo

    (Medical Genomics LLC, Tver, Moscow, Russia)

  • Elena Voskoboeva

    (Research Centre for Medical Genetics, Moscow, Russia)

  • Valeria Timonina

    (Center for Mitochondrial Functional Genomics, Immanuel Kant Baltic Federal University, Russia)

  • Christian Staufner
  • Georg F Hoffmann

    (Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Germany)

  • Johannes Poschl

    (Heidelberg University Children’s Hospital, Department of Neonatology, Germany)

  • Lea D Schlieben
  • Holger Prokisch

    (School of Medicine, Institute of Human Genetics, Technical University of Munich, Institute of Neurogenomics, Helmholtz Zentrum München, Germany
    Institute of Neurogenomics, Helmholtz Zentrum München, Germany)

  • Dmitry Kholodov
  • Sergei Ladygin

    (Fomin Clinic, Russia)

  • Svetlana Avdeichik

    (Medical Genomics LLC, Tver, Moscow, Russia
    Fomin Clinic, Russia)

  • Ilya Mazunin

    (Medical Genomics LLC, Tver, Moscow, Russia
    Fomin Clinic, Russia
    Center of Life Sciences, Skolkovo Institute of Science and Technology, Russia)

Abstract

Congenital myasthenic syndrome CMS is a neuromuscular disorder caused by pathogenic variants...

Suggested Citation

  • Maria Tofilo & Elena Voskoboeva & Valeria Timonina & Christian Staufner & Georg F Hoffmann & Johannes Poschl & Lea D Schlieben & Holger Prokisch & Dmitry Kholodov & Sergei Ladygin & Svetlana Avdeichik, 2022. "A New family with Congenital Myasthenic Syndrome Caused by Compound Heterozygous CHAT Mutations," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 44(5), pages 35972-35983, June.
    • Handle: RePEc:abf:journl:v:44:y:2022:i:5:p:35972-35983
    DOI: 10.26717/BJSTR.2022.44.007122
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    More about this item

    Keywords

    Nano Medicine; Biomedical Journal Impact Factor; Journal of Biomedical Research and Reviews; Scientific Research Articles on Biomedical; Biomedical Journal Articles; Family Medicine; Physical Medicine and Rehabilitation; Biomedical Open Access Journals; Preventive Medicine;
    All these keywords.

    JEL classification:

    • R00 - Urban, Rural, Regional, Real Estate, and Transportation Economics - - General - - - General
    • Z0 - Other Special Topics - - General

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