A Homozygous <i>ATP2A2</i> Variant Alters Sarcoendoplasmic Reticulum Ca <sup>2+</sup> ‐ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy
We report a novel adult-onset vacuolar myopathy caused by a homozygous variant in ATP2A2. Biopsy findings and functional studies demonstrating an impaired function of SERCA2 and consequent Ca<sup>2+</sup> dysregulation in slow-twitch skeletal myofibres highly support the pathogenicity of the variant.
Authors
- Montse Olivé (ORCID: https://orcid.org/0000-0001-5727-0165)
- Rosa Blanco
- Antonio Gutiérrez (ORCID: https://orcid.org/0000-0002-0813-4025)
- Nigel G. Laing (ORCID: https://orcid.org/0000-0001-5111-3732)
- Eduard Gallardo (ORCID: https://orcid.org/0000-0002-3942-3436)
- Laura Llansó (ORCID: https://orcid.org/0000-0003-4950-7657)
- Gianina Ravenscroft (ORCID: https://orcid.org/0000-0003-3634-211X)
- Leif Hove‐Madsen (ORCID: https://orcid.org/0000-0001-5493-3998)
- Marta Caballero‐Ávila (ORCID: https://orcid.org/0000-0001-9850-8504)
- Ana Vesperinas (ORCID: https://orcid.org/0000-0003-1919-9382)
- J. Parmar (ORCID: https://orcid.org/0000-0003-1864-8094)
- Cristina Aceituno
- P. Gallano (ORCID: https://orcid.org/0000-0001-8104-2197)
- Álvaro Carbayo (ORCID: https://orcid.org/0000-0001-9282-8603)
- Roger Collet
Institutions
- Universitat Autònoma de Barcelona (ES)
- The University of Western Australia (AU)
- Hospital Universitario Insular de Gran Canaria (ES)
- Harry Perkins Institute of Medical Research (AU)
- Hospital de Sant Pau (ES)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Medical Research Network (US)
Publication Details
- Journal
- Neuropathology and Applied Neurobiology
- Published
- 2025-01-16
- DOI
- https://doi.org/10.1111/nan.70000
- Citations
- 2
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Garvan Institute of Medical Research
- Instituto de Salud Carlos III