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. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470

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Copyright © 2019 Kölbel, Hathazi, Jennings, Horvath, Roos and Schara.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Muscle biopsy findings in MDC1A-patients included in the study. (A) Muscle biopsy cryostat sections stained with hematoxylin and eosin (HE) and immunofluorescence staining with anti-laminin-211 antibodies reveals absent immunoreactivity in the patient-derived sections. (B) Immunofluorescence staining of muscle cryostat sections with anti-laminin-511 antibody reveals in increased immunoreactivity in muscle biopsies of MDC1A-patients as indicated for two representative cases shown here. Ctrl, control muscle; numbers 1, 2, 3, 4, 5, and 6 refer to muscle biopsies derived from MDC1A-patients with the corresponding patient numbers listed in Table 2.