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

Maria Tofilo, Elena Voskoboeva, Valeria Timonina, Christian Staufner, Georg F Hoffmann, Johannes Poschl, Lea D Schlieben, Holger Prokisch, Dmitry Kholodov, Sergei Ladygin, Svetlana Avdeichik and Ilya Mazunin
Additional contact information
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
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
Holger Prokisch: School of Medicine, Institute of Human Genetics, Technical University of Munich, Institute of Neurogenomics, Helmholtz Zentrum München, Germany
Sergei Ladygin: Fomin Clinic, Russia
Svetlana Avdeichik: Medical Genomics LLC, Tver, Moscow, Russia
Ilya Mazunin: Medical Genomics LLC, Tver, Moscow, Russia

Biomedical Journal of Scientific & Technical Research, 2022, vol. 44, issue 5, 35972-35983

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

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 (search for similar items in EconPapers)
Date: 2022
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:44:y:2022:i:5:p:35972-35983

DOI: 10.26717/BJSTR.2022.44.007122

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