The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revea...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Schänzer, Anne [verfasserIn] |
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| Format: |
Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 |
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| Übergeordnetes Werk: |
Enthalten in: Journal of muscle research and cell motility - Springer International Publishing, 1980, 42(2021), 2 vom: 12. März, Seite 381-397 |
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| Übergeordnetes Werk: |
volume:42 ; year:2021 ; number:2 ; day:12 ; month:03 ; pages:381-397 |
| Links: |
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| DOI / URN: |
10.1007/s10974-021-09601-1 |
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OLC2127017501 |
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| 520 | |a Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. | ||
| 650 | 4 | |a Filamin C | |
| 650 | 4 | |a Hypertrophic cardiomyopathy | |
| 650 | 4 | |a Autophagy | |
| 650 | 4 | |a Myofibrillar myopathy | |
| 650 | 4 | |a BAG3 | |
| 700 | 1 | |a Schumann, Elisabeth |4 aut | |
| 700 | 1 | |a Zengeler, Diana |4 aut | |
| 700 | 1 | |a Gulatz, Lisann |4 aut | |
| 700 | 1 | |a Maroli, Giovanni |4 aut | |
| 700 | 1 | |a Ahting, Uwe |4 aut | |
| 700 | 1 | |a Sprengel, Anke |4 aut | |
| 700 | 1 | |a Gräf, Sabine |4 aut | |
| 700 | 1 | |a Hahn, Andreas |4 aut | |
| 700 | 1 | |a Jux, Christian |4 aut | |
| 700 | 1 | |a Acker, Till |4 aut | |
| 700 | 1 | |a Fürst, Dieter O. |4 aut | |
| 700 | 1 | |a Rupp, Stefan |4 aut | |
| 700 | 1 | |a Schuld, Julia |4 aut | |
| 700 | 1 | |a van der Ven, Peter F. M. |4 aut | |
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10.1007/s10974-021-09601-1 doi (DE-627)OLC2127017501 (DE-He213)s10974-021-09601-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Schänzer, Anne verfasserin (orcid)0000-0002-2014-2028 aut The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy" 2021 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. Filamin C Hypertrophic cardiomyopathy Autophagy Myofibrillar myopathy BAG3 Schumann, Elisabeth aut Zengeler, Diana aut Gulatz, Lisann aut Maroli, Giovanni aut Ahting, Uwe aut Sprengel, Anke aut Gräf, Sabine aut Hahn, Andreas aut Jux, Christian aut Acker, Till aut Fürst, Dieter O. aut Rupp, Stefan aut Schuld, Julia aut van der Ven, Peter F. M. aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 42(2021), 2 vom: 12. März, Seite 381-397 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:42 year:2021 number:2 day:12 month:03 pages:381-397 https://doi.org/10.1007/s10974-021-09601-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 AR 42 2021 2 12 03 381-397 |
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10.1007/s10974-021-09601-1 doi (DE-627)OLC2127017501 (DE-He213)s10974-021-09601-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Schänzer, Anne verfasserin (orcid)0000-0002-2014-2028 aut The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy" 2021 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. Filamin C Hypertrophic cardiomyopathy Autophagy Myofibrillar myopathy BAG3 Schumann, Elisabeth aut Zengeler, Diana aut Gulatz, Lisann aut Maroli, Giovanni aut Ahting, Uwe aut Sprengel, Anke aut Gräf, Sabine aut Hahn, Andreas aut Jux, Christian aut Acker, Till aut Fürst, Dieter O. aut Rupp, Stefan aut Schuld, Julia aut van der Ven, Peter F. M. aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 42(2021), 2 vom: 12. März, Seite 381-397 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:42 year:2021 number:2 day:12 month:03 pages:381-397 https://doi.org/10.1007/s10974-021-09601-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 AR 42 2021 2 12 03 381-397 |
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10.1007/s10974-021-09601-1 doi (DE-627)OLC2127017501 (DE-He213)s10974-021-09601-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Schänzer, Anne verfasserin (orcid)0000-0002-2014-2028 aut The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy" 2021 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. Filamin C Hypertrophic cardiomyopathy Autophagy Myofibrillar myopathy BAG3 Schumann, Elisabeth aut Zengeler, Diana aut Gulatz, Lisann aut Maroli, Giovanni aut Ahting, Uwe aut Sprengel, Anke aut Gräf, Sabine aut Hahn, Andreas aut Jux, Christian aut Acker, Till aut Fürst, Dieter O. aut Rupp, Stefan aut Schuld, Julia aut van der Ven, Peter F. M. aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 42(2021), 2 vom: 12. März, Seite 381-397 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:42 year:2021 number:2 day:12 month:03 pages:381-397 https://doi.org/10.1007/s10974-021-09601-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 AR 42 2021 2 12 03 381-397 |
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10.1007/s10974-021-09601-1 doi (DE-627)OLC2127017501 (DE-He213)s10974-021-09601-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Schänzer, Anne verfasserin (orcid)0000-0002-2014-2028 aut The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy" 2021 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. Filamin C Hypertrophic cardiomyopathy Autophagy Myofibrillar myopathy BAG3 Schumann, Elisabeth aut Zengeler, Diana aut Gulatz, Lisann aut Maroli, Giovanni aut Ahting, Uwe aut Sprengel, Anke aut Gräf, Sabine aut Hahn, Andreas aut Jux, Christian aut Acker, Till aut Fürst, Dieter O. aut Rupp, Stefan aut Schuld, Julia aut van der Ven, Peter F. M. aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 42(2021), 2 vom: 12. März, Seite 381-397 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:42 year:2021 number:2 day:12 month:03 pages:381-397 https://doi.org/10.1007/s10974-021-09601-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 AR 42 2021 2 12 03 381-397 |
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10.1007/s10974-021-09601-1 doi (DE-627)OLC2127017501 (DE-He213)s10974-021-09601-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Schänzer, Anne verfasserin (orcid)0000-0002-2014-2028 aut The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy" 2021 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. Filamin C Hypertrophic cardiomyopathy Autophagy Myofibrillar myopathy BAG3 Schumann, Elisabeth aut Zengeler, Diana aut Gulatz, Lisann aut Maroli, Giovanni aut Ahting, Uwe aut Sprengel, Anke aut Gräf, Sabine aut Hahn, Andreas aut Jux, Christian aut Acker, Till aut Fürst, Dieter O. aut Rupp, Stefan aut Schuld, Julia aut van der Ven, Peter F. M. aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 42(2021), 2 vom: 12. März, Seite 381-397 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:42 year:2021 number:2 day:12 month:03 pages:381-397 https://doi.org/10.1007/s10974-021-09601-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 AR 42 2021 2 12 03 381-397 |
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Enthalten in Journal of muscle research and cell motility 42(2021), 2 vom: 12. März, Seite 381-397 volume:42 year:2021 number:2 day:12 month:03 pages:381-397 |
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Enthalten in Journal of muscle research and cell motility 42(2021), 2 vom: 12. März, Seite 381-397 volume:42 year:2021 number:2 day:12 month:03 pages:381-397 |
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Schänzer, Anne @@aut@@ Schumann, Elisabeth @@aut@@ Zengeler, Diana @@aut@@ Gulatz, Lisann @@aut@@ Maroli, Giovanni @@aut@@ Ahting, Uwe @@aut@@ Sprengel, Anke @@aut@@ Gräf, Sabine @@aut@@ Hahn, Andreas @@aut@@ Jux, Christian @@aut@@ Acker, Till @@aut@@ Fürst, Dieter O. @@aut@@ Rupp, Stefan @@aut@@ Schuld, Julia @@aut@@ van der Ven, Peter F. M. @@aut@@ |
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Schänzer, Anne Schumann, Elisabeth Zengeler, Diana Gulatz, Lisann Maroli, Giovanni Ahting, Uwe Sprengel, Anke Gräf, Sabine Hahn, Andreas Jux, Christian Acker, Till Fürst, Dieter O. Rupp, Stefan Schuld, Julia van der Ven, Peter F. M. |
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the p.ala2430val mutation in filamin c causes a "hypertrophic myofibrillar cardiomyopathy" |
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The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy" |
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Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 |
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Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 |
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Abstract Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant protein in transfected cells. Myocardial tissue from patients with this mutation has not been analyzed before and thus, the underlying etiology is not well understood. Myocardial tissue of our patient obtained during myectomy at the age of 23 years was analyzed in detail by histochemistry, immunofluorescence staining, electron microscopy and western blot analysis. Cardiac histology showed a pathology typical for myofibrillar myopathy with myofibril disarray and abnormal protein aggregates containing BAG3, desmin, HSPB5 and filamin C. Analysis of sarcomeric and intercalated disc proteins showed focally reduced expression of the gap junction protein connexin43 and Xin-positive sarcomeric lesions in the cardiomyocytes of our patient. In addition, autophagy pathways were altered with upregulation of LC3-II, WIPI1 and HSPB5, 6, 7 and 8. We conclude that the p.Ala2430Val mutation in FLNC most probably is associated with HCM characterized by abnormal intercalated discs, disarray of myofibrils and aggregates containing Z-disc proteins similar to myofibrillar myopathy, which supports the pathological effect of the mutation. © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 |
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