Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey
ANNALS OF INDIAN ACADEMY OF NEUROLOGY, vol.24, no.4, pp.547-551, 2021 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 24 Issue: 4
- Publication Date: 2021
- Doi Number: 10.4103/aian.aian_1182_20
- Journal Name: ANNALS OF INDIAN ACADEMY OF NEUROLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
- Page Numbers: pp.547-551
- Dokuz Eylül University Affiliated: No
Abstract
Objectives: Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy. Methods: In this study, we evaluated the clinical, pathologic, and genetic features of 8 patients with Bethlem myopathy from 3 families. Results: We inspected disease course differences with age and mutations. Different variants in COL6A1 and COL6A2 genes were detected. Muscle MRI of the lower limbs showed a specific pattern of muscle involvement with variable severity of fatty infiltration. One family had essential hypertension. Conclusion: Genotype-phenotype correlation studies are critical in determining gene or mutation-targeted therapies, patient follow-up, severity and progression prediction, and genetic counselling.