1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022) Authors: Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour... Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗