Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

• Frances Smith,
• Sila Hopton,
• Cristina Dallabona,
• Micol Gilberti,
• Gavin Falkous,
• Fiona Norwood,
• Claudia Donnini,
• Gráinne S. Gorman,
• Barnaby Clark,
• Robert W. Taylor,
• Austin G. Kulasekararaj

Affiliations

Frances Smith

Molecular Pathology, Viapath at King’s College Hospital, London, UK

Sila Hopton

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

Cristina Dallabona

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Italy

Micol Gilberti

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Italy

Gavin Falkous

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

Fiona Norwood

Department of Neurology, King’s College Hospital, London, UK

Claudia Donnini

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Italy

Gráinne S. Gorman

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

Barnaby Clark

Department of Haematological Medicine, King’s College Hospital, London, UK;Molecular Haematology, King’s College London, UK

Robert W. Taylor

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

Austin G. Kulasekararaj

Department of Haematological Medicine, King’s College Hospital, London, UK