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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Correlations between physical and ultrasound findings in congenital clubfoot at birth.
Josse A, Fraisse B, Marleix S, Tréguier C, Le Lez Soquet S, Chouklati K, Darnault P, Gomes M, Lucas G, Violas P; Orthopaedics and Traumatology Society of Western France (SOO). Josse A, et al. Among authors: le lez soquet s. Orthop Traumatol Surg Res. 2018 Sep;104(5):651-655. doi: 10.1016/j.otsr.2018.02.019. Epub 2018 Jun 12. Orthop Traumatol Surg Res. 2018. PMID: 29902638 Free article.