An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy.
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| Title: | An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy. |
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| Authors: | Lopes LR; Institute of Cardiovascular Science, University College London, London, UK. luis.lopes.10@ucl.ac.uk.; St. Bartholomew's Hospital, Barts Heart Centre, London, UK. luis.lopes.10@ucl.ac.uk.; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK. luis.lopes.10@ucl.ac.uk., Macken WL; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Preez SD; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Kotwal H; St. Bartholomew's Hospital, Barts Heart Centre, London, UK., Savvatis K; Institute of Cardiovascular Science, University College London, London, UK.; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.; William Harvey Institute, Queen Mary University of London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK., Sekhri N; St. Bartholomew's Hospital, Barts Heart Centre, London, UK., Mohiddin SA; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.; William Harvey Institute, Queen Mary University of London, London, UK., Kabiljo R; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK., Pitceathly RDS; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk. |
| Source: | Human genomics [Hum Genomics] 2024 Dec 05; Vol. 18 (1), pp. 136. Date of Electronic Publication: 2024 Dec 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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