Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.
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| Title: | Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. |
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| Authors: | Wang J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States., Peterson JT; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Santos JDD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Chan AJS; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Diaz-Miranda MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Rahaman I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Flickinger J; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States., Bogush E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Dulik MC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States., Wallace DC; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Xiao R; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States., Viaene AN; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. |
| Source: | Frontiers in pharmacology [Front Pharmacol] 2025 Apr 09; Vol. 16, pp. 1507493. Date of Electronic Publication: 2025 Apr 09 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40271067 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Peterson+JT%22">Peterson JT</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Santos+JDD%22">Santos JDD</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Chan+AJS%22">Chan AJS</searchLink>; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Diaz-Miranda+MA%22">Diaz-Miranda MA</searchLink>; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Rahaman+I%22">Rahaman I</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Flickinger+J%22">Flickinger J</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Goldstein+A%22">Goldstein A</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Bogush+E%22">Bogush E</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22McCormick+EM%22">McCormick EM</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Muraresku+CC%22">Muraresku CC</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Anderson+VE%22">Anderson VE</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Dulik+MC%22">Dulik MC</searchLink>; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Wallace+DC%22">Wallace DC</searchLink>; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Xiao+R%22">Xiao R</searchLink>; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Falk+MJ%22">Falk MJ</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Viaene+AN%22">Viaene AN</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Zolkipli-Cunningham+Z%22">Zolkipli-Cunningham Z</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101548923%22">Frontiers in pharmacology</searchLink> [Front Pharmacol] 2025 Apr 09; Vol. 16, pp. 1507493. <i>Date of Electronic Publication: </i>2025 Apr 09 (<i>Print Publication: </i>2025). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media]%22">Frontiers Media] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101548923 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1663-9812 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216639812%22">16639812 </searchLink><i>NLM ISO Abbreviation: </i>Front Pharmacol <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40271067 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fphar.2025.1507493 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1507493 Titles: – TitleFull: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Wang J – PersonEntity: Name: NameFull: Peterson JT – PersonEntity: Name: NameFull: Santos JDD – PersonEntity: Name: NameFull: Chan AJS – PersonEntity: Name: NameFull: Diaz-Miranda MA – PersonEntity: Name: NameFull: Rahaman I – PersonEntity: Name: NameFull: Flickinger J – PersonEntity: Name: NameFull: Goldstein A – PersonEntity: Name: NameFull: Bogush E – PersonEntity: Name: NameFull: McCormick EM – PersonEntity: Name: NameFull: Muraresku CC – PersonEntity: Name: NameFull: Anderson VE – PersonEntity: Name: NameFull: Dulik MC – PersonEntity: Name: NameFull: Wallace DC – PersonEntity: Name: NameFull: Xiao R – PersonEntity: Name: NameFull: Falk MJ – PersonEntity: Name: NameFull: Viaene AN – PersonEntity: Name: NameFull: Zolkipli-Cunningham Z IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 04 Text: 2025 Apr 09 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 1663-9812 Numbering: – Type: volume Value: 16 Titles: – TitleFull: Frontiers in pharmacology Type: main |
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