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Genotype-phenotype correlation of the childhood-onset bethlem myopathy in the mediterranean region of Turkey
Muhammet G Kutluk1, Naz Kadem2, Omer Bektas3, Nadide C Randa4, Gökcen O Tuncer3, Pelin Albayrak3, Tuba Eminoglu5, Serap T Teber3
1 Department of Paediatrics Neurology, Antalya Research and Training Hospital, Antalya, Turkey
2 Department of Paediatrics, Antalya Research and Training Hospital, Antalya, Turkey
3 Department of Paediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey
4 Department of Medical Genetics, Antalya Research and Training Hospital, Antalya, Turkey
5 Department of Paediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey
Correspondence Address:
Muhammet G Kutluk,
Antalya Research and Training Hospital Varlik Avenue Kazim Karabekir Street, 07100 Muratpasa, Antalya
Turkey
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/aian.AIAN_1182_20
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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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