Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5.
1] Moorfields Eye Hospital, NHS Foundation Trust, London, UK [2] Department of Ophthalmology, Hospital de Santa Maria, Lisbon, Portugal.
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Vaz-Pereira
Moorfields Eye Hospital, NHS Foundation Trust, London, UK.
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Dansingani
Moorfields Eye Hospital, NHS Foundation Trust, London, UK.
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Holder
1] Moorfields Eye Hospital, NHS Foundation Trust, London, UK [2] Institute of Ophthalmology, University College London, London, UK.
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Webster
D000368:Aged; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation; D035781:Siblings; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels