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. 2019 May 13;142(6):1547–1560. doi: 10.1093/brain/awz107

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© The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Course of disease in patients with COL13A1-CMS. The proposed course of disease in COL13A1-CMS based on the observations made from the cases reported in this study. Axial weakness remained severe throughout the disease course while limb weakness and bulbar weakness improved over time. The respiratory function also improved with time but some adult patients had respiratory crisis or needed non-invasive ventilation most likely due to morphological abnormalities of the chest and the spine causing reduced vital capacity.