Sarcomeric myopathies associated with tremor: new insights and perspectives
Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the...
Ausführliche Beschreibung
Autor*in: |
Stavusis, Janis [verfasserIn] |
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Format: |
Artikel |
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Sprache: |
Englisch |
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2019 |
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Anmerkung: |
© Springer Nature Switzerland AG 2019 |
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Übergeordnetes Werk: |
Enthalten in: Journal of muscle research and cell motility - Springer International Publishing, 1980, 41(2019), 4 vom: 16. Okt., Seite 285-295 |
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Übergeordnetes Werk: |
volume:41 ; year:2019 ; number:4 ; day:16 ; month:10 ; pages:285-295 |
Links: |
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DOI / URN: |
10.1007/s10974-019-09559-1 |
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Katalog-ID: |
OLC2121496998 |
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520 | |a Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. | ||
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10.1007/s10974-019-09559-1 doi (DE-627)OLC2121496998 (DE-He213)s10974-019-09559-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Stavusis, Janis verfasserin aut Sarcomeric myopathies associated with tremor: new insights and perspectives 2019 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © Springer Nature Switzerland AG 2019 Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. Sarcomeric genes Congenital myopathy Muscle weakness Hypotonia Tremor Geist, Janelle aut Kontrogianni-Konstantopoulos, Aikaterini (orcid)0000-0003-3948-1959 aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 41(2019), 4 vom: 16. Okt., Seite 285-295 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:41 year:2019 number:4 day:16 month:10 pages:285-295 https://doi.org/10.1007/s10974-019-09559-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 GBV_ILN_4219 AR 41 2019 4 16 10 285-295 |
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10.1007/s10974-019-09559-1 doi (DE-627)OLC2121496998 (DE-He213)s10974-019-09559-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Stavusis, Janis verfasserin aut Sarcomeric myopathies associated with tremor: new insights and perspectives 2019 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © Springer Nature Switzerland AG 2019 Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. Sarcomeric genes Congenital myopathy Muscle weakness Hypotonia Tremor Geist, Janelle aut Kontrogianni-Konstantopoulos, Aikaterini (orcid)0000-0003-3948-1959 aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 41(2019), 4 vom: 16. Okt., Seite 285-295 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:41 year:2019 number:4 day:16 month:10 pages:285-295 https://doi.org/10.1007/s10974-019-09559-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 GBV_ILN_4219 AR 41 2019 4 16 10 285-295 |
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10.1007/s10974-019-09559-1 doi (DE-627)OLC2121496998 (DE-He213)s10974-019-09559-1-p DE-627 ger DE-627 rakwb eng 590 570 VZ 12 ssgn BIODIV DE-30 fid Stavusis, Janis verfasserin aut Sarcomeric myopathies associated with tremor: new insights and perspectives 2019 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier © Springer Nature Switzerland AG 2019 Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. Sarcomeric genes Congenital myopathy Muscle weakness Hypotonia Tremor Geist, Janelle aut Kontrogianni-Konstantopoulos, Aikaterini (orcid)0000-0003-3948-1959 aut Enthalten in Journal of muscle research and cell motility Springer International Publishing, 1980 41(2019), 4 vom: 16. Okt., Seite 285-295 (DE-627)166717754 (DE-600)283053-X (DE-576)015170152 0142-4319 nnns volume:41 year:2019 number:4 day:16 month:10 pages:285-295 https://doi.org/10.1007/s10974-019-09559-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-BIODIV SSG-OLC-WIW GBV_ILN_2221 GBV_ILN_4219 AR 41 2019 4 16 10 285-295 |
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Sarcomeric myopathies associated with tremor: new insights and perspectives |
abstract |
Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. © Springer Nature Switzerland AG 2019 |
abstractGer |
Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. © Springer Nature Switzerland AG 2019 |
abstract_unstemmed |
Abstract Myopathies are a large and heterogeneous group of disorders associated with mutations in structural and regulatory genes responsible for proper muscle assembly, organization and function. Despite the molecular diversity of inherited myopathies, they have historically been classified by the phenotypic traits observed in affected patients. It is therefore common for myopathies originating from mutations in different genes to be grouped together due to similar physical manifestations, and conversely myopathies resulting from mutations in the same gene to be considered separately due to disparate symptoms. Herein, we focus on an early onset myopathy linked to inherited or de novo mutations in sarcomeric genes that is characterized by muscle weakness, hypotonia and tremor, and further highlight that it may constitute a new form of myopathy, with tremor as its defining feature. Based on recent reports, we also discuss the possible myogenic origin of the tremor that may start at the level of the sarcomere due to structural and/or contractile alterations occurring as a result of the identified mutations. It is our hope that establishment of this form of myopathy accompanied by myogenic tremor as a new disease entity will have important diagnostic and therapeutic implications. © Springer Nature Switzerland AG 2019 |
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title_short |
Sarcomeric myopathies associated with tremor: new insights and perspectives |
url |
https://doi.org/10.1007/s10974-019-09559-1 |
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author2 |
Geist, Janelle Kontrogianni-Konstantopoulos, Aikaterini |
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Geist, Janelle Kontrogianni-Konstantopoulos, Aikaterini |
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doi_str |
10.1007/s10974-019-09559-1 |
up_date |
2024-07-04T07:07:26.325Z |
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