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. 2021 Sep 17;9:155. doi: 10.1186/s40478-021-01254-y

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — Unspecific histological findings on muscle biopsies. A Histological and ultrastructural investigations on muscle sections revealed inconsistent and unspecific findings including fiber size variability on H&E (families 1 and 7), mitochondrial mispositioning on Gomori trichrome and NADH-TR (white arrows, families 1 and 7), atrophy of dark type I fibers on NADH-TR (family 1), predominance of type I fibers on NADH-TR and ATPase (family 6), as well as crystalloid inclusions within mitochondria (white arrow and zoom, family 1) and lipid droplets on EM (yellow arrows, families 1 and 4). Sarcomeric disarray and Z-band streaming were not observed. B Pedigrees of the nine families and exemplary electropherograms of healthy and affected individuals indicating the position of the RYR1 mutation. WT indicates molecular tested healthy individuals, and grey symbols depict reportedly affected individuals without genetic test. C Skeletal muscle cDNA sequence of the index patient from family 8 encompassing RYR1 exons 88 and 89 and excluding a major effect of the mutation on splicing