E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
23 / 05 / 2018

 


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

Muhsin Elmas, Basak Gogus.


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.

Key words: Myopathies, Drug resistant epilepsy, Microcephaly


 
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Pubmed Style

Elmas M, Gogus B, . A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBCGenetics. 2018; 1(2): 81-83. doi:10.24911/JBCGenetics/183-1541166651


Web Style

Elmas M, Gogus B, . A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. https://www.jbcgenetics.com/?mno=15500 [Access: March 15, 2024]. doi:10.24911/JBCGenetics/183-1541166651


AMA (American Medical Association) Style

Elmas M, Gogus B, . A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBCGenetics. 2018; 1(2): 81-83. doi:10.24911/JBCGenetics/183-1541166651



Vancouver/ICMJE Style

Elmas M, Gogus B, . A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBCGenetics. (2018), [cited March 15, 2024]; 1(2): 81-83. doi:10.24911/JBCGenetics/183-1541166651



Harvard Style

Elmas, M., Gogus, . B. & (2018) A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. JBCGenetics, 1 (2), 81-83. doi:10.24911/JBCGenetics/183-1541166651



Turabian Style

Elmas, Muhsin, Basak Gogus, and . 2018. A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. Journal of Biochemical and Clinical Genetics, 1 (2), 81-83. doi:10.24911/JBCGenetics/183-1541166651



Chicago Style

Elmas, Muhsin, Basak Gogus, and . "A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene." Journal of Biochemical and Clinical Genetics 1 (2018), 81-83. doi:10.24911/JBCGenetics/183-1541166651



MLA (The Modern Language Association) Style

Elmas, Muhsin, Basak Gogus, and . "A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene." Journal of Biochemical and Clinical Genetics 1.2 (2018), 81-83. Print. doi:10.24911/JBCGenetics/183-1541166651



APA (American Psychological Association) Style

Elmas, M., Gogus, . B. & (2018) A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene. Journal of Biochemical and Clinical Genetics, 1 (2), 81-83. doi:10.24911/JBCGenetics/183-1541166651





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