<i>CAPN3</i> c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related-Reference-Cited by-同舟云学术

CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related

Published:2022-06-22 Issue:10 Volume:43 Page:1347-1353
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mroczek Magdalena¹^ORCID,Inashkina Inna²^ORCID,Stavusis Janis²^ORCID,Zayakin Pawel²,Khrunin Andrey³^ORCID,Micule Ieva²,Kenina Victorija⁴⁵,Zdanovica Anna²,Zídková Jana⁶^ORCID,Fajkusová Lenka⁶^ORCID,Limborska Svetlana³^ORCID,van der Kooi Anneke J.⁷,Brusse Esther⁸,Leonardis Lea⁹^ORCID,Maver Ales¹⁰,Pajusalu Sander¹¹¹²^ORCID,Õunap Katrin¹¹¹²^ORCID,Puusepp Sanna¹¹¹²^ORCID,Dobosz Paula¹³¹⁴¹⁵^ORCID,Sypniewski Mateusz¹³^ORCID,Burnyte Birute¹⁶,Lace Baiba²¹⁷^ORCID

Affiliation:

1. Department of Neurology and Neurophysiology Balgrist University Hospital, University of Zurich Zürich Switzerland

2. Biomedical Research and Study Center Riga Latvia

3. Institute of Molecular Genetics of National Research Centre “Kurchatov Institute” Moscow Russia

4. Department of Biology and Microbiology Riga Stradins University Riga Latvia

5. Rare Disease Center Riga East Clinical University Hospital Riga Latvia

6. Centre of Molecular Biology And Genetics, University Hospital Brno Czech Republic

7. Department of Neurology Amsterdam University Medical Centre, Amsterdam Neuroscience Amsterdam The Netherlands

8. Department of Neurology Erasmus MC University Medical Center Rotterdam The Netherlands

9. Department of Neurology University Medical Centre Ljubljana, Faculty of Medicine, University of Ljubljana Ljubljana Slovenia

10. Clinical Institute of Medical Genetics, University Medical Centre Ljubljana Ljubljana Slovenia

11. Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu Tartu Estonia

12. Department of Clinical Genetics, United Laboratories Tartu University Hospital Tartu Estonia

13. MNM Diagnostics Sp. z o.o. Poznań Poland

14. Department of Hematology, Transplantation and Internal Medicine University Clinical Center of the Medical University of Warsaw Warsaw Poland

15. Central Clinical Hospital of Ministry of the Interior and Administration in Warsaw Warsaw Poland

16. Department of Human and Medical Genetics Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University Vilnius Lithuania

17. Medical Genetics Clinic, Children's Clinical University Hospital Riga Latvia

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Russian Foundation for Basic Research

European Regional Development Fund

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24421

Reference29 articles.

1. GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

2. Calpain-3 mutations in Turkey

3. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

4. Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

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