1. Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.
- Author
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Kutluk, Muhammet G., Kadem, Naz, Bektas, Omer, Randa, Nadide C., Tuncer, Gökcen O., Albayrak, Pelin, Eminoglu, Tuba, and Teber, Serap T.
- Subjects
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MUSCULAR dystrophy , *COLLAGEN , *GENETIC mutation , *AGE distribution , *MAGNETIC resonance imaging , *RETROSPECTIVE studies , *GENOTYPES , *GENES , *GENETIC counseling , *PHENOTYPES - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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