File:PMC4568311 emss-64879-f0001.png

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Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Summary

Author:Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Man PY, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R ,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle(Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC4568311_emss-64879-f0001&query=&req=4 Description:F1: Clinical presentation and brain MRI of patients carrying homozygous nonsense mutations in the C12orf65 gene. Patient 1 and 2 (A), patient 3 (B), patient 4 (C), brain MRI of patients 1 (D) and 3 (E) detected bilateral, symmetric hyperintensities in the posterior pons and medullary region.

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Date/TimeThumbnailDimensionsUserComment
current19:51, 18 December 2021Thumbnail for version as of 19:51, 18 December 2021480 × 1,024 (717 KB)Ozzie10aaaaAuthor:Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Man PY, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R ,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle(Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC4568311_emss-64879-f0001&query=&req=4 Description:F1: Clinical pre...

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