An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India
This is the first report of POPDC3- LGMDR26 from India detected among a large cohort (461 genetically confirmed cases). <i>POPDC3</i> gene variations should be considered in distal onset LGMDs with markedly elevated serum creatine kinase levels.
Authors
- Ananthapadmanabha Kotambail (ORCID: https://orcid.org/0000-0003-0037-5374)
- Atchayaram Nalini (ORCID: https://orcid.org/0000-0001-9791-3639)
- Seena Vengalil (ORCID: https://orcid.org/0000-0002-0629-9221)
- Dipti Baskar (ORCID: https://orcid.org/0000-0002-8362-7380)
- Kiran Polavarapu (ORCID: https://orcid.org/0000-0002-8879-6001)
- Seetam Kumar Tumulu (ORCID: https://orcid.org/0000-0003-4492-7783)
- Gautham Arunachal (ORCID: https://orcid.org/0000-0002-8565-1624)
- Madhulika Kotra (ORCID: https://orcid.org/0000-0002-7929-5635)
- Darshan Gowda
Institutions
- University of Ottawa (CA)
- Children's Hospital of Eastern Ontario (CA)
- Ottawa Hospital (CA)
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2025-09-30
- DOI
- https://doi.org/10.1177/22143602251370589
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00