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Della Marina A, Arlt A, Schara-Schmidt U, et al. Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in . Cells. 2021;10(12)doi: 10.3390/cells10123481.
Della Marina, A., Arlt, A., Schara-Schmidt, U., Depienne, C., Gangfuß, A., Kölbel, H., Sickmann, A., Freier, E., Kohlschmidt, N., Hentschel, A., Weis, J., Czech, A., Grüneboom, A., & Roos, A. (2021). Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in . Cells, 10(12), . https://doi.org/10.3390/cells10123481
Della Marina, Adela, et al. "Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in ." Cells vol. 10,12 (2021). doi: https://doi.org/10.3390/cells10123481
Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A. Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in . Cells. 2021 Dec 09;10(12). doi: 10.3390/cells10123481. PMID: 34943989.
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Cells. 2021 Dec 09;10(12). doi: 10.3390/cells10123481.

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in .

Cells

Adela Della Marina, Annabelle Arlt, Ulrike Schara-Schmidt, Christel Depienne, Andrea Gangfuß, Heike Kölbel, Albert Sickmann, Erik Freier, Nicolai Kohlschmidt, Andreas Hentschel, Joachim Weis, Artur Czech, Anika Grüneboom, Andreas Roos

Affiliations

  1. Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
  2. Institute of Clinical Genetics and Tumor Genetics Bonn, 53111 Bonn, Germany.
  3. Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
  4. Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
  5. Institute of Neuropathology, University Hospital Aachen, RWTH-Aachen University, 52074 Aachen, Germany.
  6. Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.

PMID: 34943989 DOI: 10.3390/cells10123481

Abstract

BACKGROUND: Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in

METHODS: Exome sequencing (ES) was carried out to identify the molecular genetic cause of the disease in a 5-year-old male patient and histological, immunofluorescence as well as electron- and CARS-microscopic studies were performed to delineate the muscle pathology, which has so far only been studied in VAChT-deficient animal models.

RESULTS: ES unraveled compound heterozygous missense and nonsense variants (c.315G>A, p.Trp105* and c.1192G>C, p.Asp398His) in

CONCLUSIONS: We suggest that nonsense variants have a more detrimental impact on the clinical manifestation of

Keywords: CARS microscopy; SLC18A1; congenital myasthenic syndrome; lipid accumulation; muscle biopsy; vesicular acetylcholine transporter (VAChT)

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