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Acknowledgements
The research was supported by the National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital, NHS Foundation Trust and UCL Institute of Ophthalmology. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. The study was part of a larger study in macular disease funded by Fight for Sight (Mercer Fund) and the macular disease society of the UK. The ANO5 gene mutation analysis was performed at the NCST Diagnostic and Advisory Service for Rare Neuromuscular Diseases, Newcastle upon Tyne, UK.
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Vaz-Pereira, S., Dansingani, K., Holder, G. et al. Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5. Eye 28, 102–104 (2014). https://doi.org/10.1038/eye.2013.247
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DOI: https://doi.org/10.1038/eye.2013.247