Short ReportCollagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish FamilyMihaylova, Violeta MD*; Chablais, Fabian PhD†; Bremer, Juliane MD‡,§; Guggenberger, Roman MD¶; Rushing, Elisabeth J. MD‡; Bethge, Tobias Dr.rar.nat†; Spiegel, Roland MD†; Jung, Hans-Heinrich MD*Author Information *Department of Neurology, University Hospital and University of Zurich, Zürich, Switzerland; †Genetica, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland; ‡Institute of Neuropathology, University Hospital and University of Zurich, Zürich, Switzerland; §Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, Germany; and ¶Department of Radiology, University Hospital and University of Zurich, Zürich, Switzerland. Reprints: Violeta Mihaylova, University Hospital Zurich, Frauenklinikstrasse 26, 8091 Zurich, Switzerland (e-mail: [email protected]). The authors report no conflicts of interest. Journal of Clinical Neuromuscular Disease: March 2021 - Volume 22 - Issue 3 - p 173-179 doi: 10.1097/CND.0000000000000320 Buy Metrics Abstract Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A > G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1–39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.