Key result
Evaluation of 8 patients with Bethlem myopathy identified different variants in COL6A1 and COL6A2 genes and a specific pattern of muscle involvement with variable fatty infiltration on MRI.
Why the study?
Collagen-VI-related myopathies present as Bethlem myopathy and Ullrich congenital muscular dystrophy, and genotype-phenotype correlations are critical for determining targeted therapies, predicting progression, and guiding genetic counselling.
Population
8 patients with Bethlem myopathy from 3 families
Design
Observational study
Loading...
Should not yet change practice in Bethlem myopathy; leaves open the value of COL6 genotyping and MRI for progression prediction.
Observational (n=8)
The study highlights the importance of genotype-phenotype correlations in Bethlem myopathy for determining targeted therapies and predicting disease progression.
A 2021 study conducted an observational in Childhood-Onset Bethlem Myopathy (n=8). Genetic variants in COL6A1 and COL6A2 was evaluated on Clinical, pathologic, and genetic features. Evaluation of 8 patients with Bethlem myopathy identified different variants in COL6A1 and COL6A2 genes and a specific pattern of muscle involvement with variable fatty infiltration on MRI.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: