Annals of Indian Academy of Neurology (Jan 2021)

Genotype-phenotype correlation of the childhood-onset bethlem myopathy in the mediterranean region of Turkey

  • Muhammet G Kutluk,
  • Naz Kadem,
  • Omer Bektas,
  • Nadide C Randa,
  • Gökcen O Tuncer,
  • Pelin Albayrak,
  • Tuba Eminoglu,
  • Serap T Teber

DOI
https://doi.org/10.4103/aian.AIAN_1182_20
Journal volume & issue
Vol. 24, no. 4
pp. 547 – 551

Abstract

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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.

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