What type of study is this?

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala

View Full Paper

Ask AI

Bookmark

Authors

Case report identifies a novel genetic variant in COL6A1, highlighting familial aspects of proximal myopathy.

Identification of a novel genetic variant in the COL6A1 gene contributes to the understanding of bethlem myopathy.
A young male presented with progressive proximal myopathy and unique calf hypertrophy, indicating a specific phenotype.
Family history reveals multiple affected individuals, suggesting possible hereditary patterns of the condition.
The study expands the phenotypic and genetic spectrum of collagen type VI-related myopathies.

Saibaba et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark