Case Report

Volume: 1 | Issue: 2 | Published: May 23, 2018 | Pages: 81 - 83 | DOI: 10.24911/JBCGenetics/183-1541166651

A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene

Authors: Muhsin Elmas , Basak Gogus

Article Info

Authors

Muhsin Elmas

Afyon Sağlık Bilimleri University. Medical Facutly, Medical Genetic

Basak Gogus

Afyon Sağlık Bilimleri University. Medical Facutly, Medical Genetic

Publication History

Received: November 02, 2018

Accepted: January 08, 2019

Published: May 23, 2018

Abstract

Background: Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Ullrich congenital muscular dystrophy (UCMD) (UCMD; Mendelian Inheritance in Man [MIM] 254090), Bethlem myopathy (BM) (BM; MIM 158810) and phenotypes between BM and UCMD. Both of UCMD and BM are inherited as autosomal dominant and autosomal recessive. Case Presentation: A 4-year-old patient presented to the clinical genetic department with complaints of mental motor retardation, epilepsy and joint contractures. The patient's physical examination, biochemical test results, magnetic resonance image, echocardiography were lead us suspected from congenital muscular dystrophy. Then WES analysis was performed. As a result of WES analysis, homozygous mutation was detected in COL6A2 gene. Conclusion: WES analysis is a good method for diseases with recessive inheritance. In addition, detailed and holistic assessment of patients is important.

Keywords: Myopathies, Drug resistant epilepsy, Microcephaly

Open access Creative Commons License

Pubmed Style

Muhsin Elmas, Basak Gogus. A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBC Genetics. 2018; 23 (May 2018): 81-83. doi:10.24911/JBCGenetics/183-1541166651

Web Style

Muhsin Elmas, Basak Gogus. A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. https://www.jbcgenetics.com/index.php/articles/2116 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1541166651

AMA (American Medical Association) Style

Muhsin Elmas, Basak Gogus. A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBC Genetics. 2018; 23 (May 2018): 81-83. doi:10.24911/JBCGenetics/183-1541166651

Vancouver/ICMJE Style

Muhsin Elmas, Basak Gogus. A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBC Genetics. (2018), [cited April 27, 2025]; 23 (May 2018): 81-83. doi:10.24911/JBCGenetics/183-1541166651

Harvard Style

Muhsin Elmas, Basak Gogus (2018) A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBC Genetics, 23 (May 2018): 81-83. doi:10.24911/JBCGenetics/183-1541166651

Chicago Style

Muhsin Elmas, Basak Gogus. "A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene." 23 (2018), 81-83. doi:10.24911/JBCGenetics/183-1541166651

MLA (The Modern Language Association) Style

Muhsin Elmas, Basak Gogus. "A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene." 23.May 2018 (2018), 81-83. Print. doi:10.24911/JBCGenetics/183-1541166651

APA (American Psychological Association) Style

Muhsin Elmas, Basak Gogus (2018) A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. , 23 (May 2018), 81-83. doi:10.24911/JBCGenetics/183-1541166651