Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala
Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of calf hypertrophy who tested positive for a novel genetic variant in the COL6A1 gene.
Authors
- Saranya B Gomathy (ORCID: https://orcid.org/0009-0002-8862-0505)
- Sunil K. Narayan (ORCID: https://orcid.org/0000-0001-9866-2894)
- Santhakumar Senthilvelan (ORCID: https://orcid.org/0000-0003-2026-6159)
- Ramkumar Sugumaran (ORCID: https://orcid.org/0000-0002-4007-4640)
- Jayaram Saibaba (ORCID: https://orcid.org/0009-0003-0736-5141)
Institutions
- Jawaharlal Institute of Post Graduate Medical Education and Research (IN)
Publication Details
- Journal
- Annals of Indian Academy of Neurology
- Published
- 2025-09-01
- DOI
- https://doi.org/10.4103/aian.aian_146_25
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00