Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.

Kutluk M. G., Kadem N., BEKTAŞ Ö., Randa N. C., Tuncer G. O., Albayrak P., ...Daha Fazla

Annals of Indian Academy of Neurology, cilt.24, sa.4, ss.547-551, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 4
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4103/aian.aian_1182_20
  • Dergi Adı: Annals of Indian Academy of Neurology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Sayfa Sayıları: ss.547-551
  • Anahtar Kelimeler: Bethlem myopathy, collagen VI, COL6A2, Ullrich congenital muscular dystrophy
  • Ankara Üniversitesi Adresli: Evet

Özet

© 2021 Wolters Kluwer Medknow Publications. All rights reserved.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.