Skip navigation

Repositorio Institucional Continental


Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12394/7600
Title: Biochemistry, cytogenetics and DMD gene mutations in South Indian patients with duchenne muscular dystrophy
Authors: Meyyazhagan, A.
Raman, N. M.
Easwaran, M
Balasubramanian, B
Alagamuthu, K.
Bhotla, H. Kuchi
Shanmugam, S.
Inbaraj, K.
Kumar, M. Ramesh
Kumar, P.
Thangamani, L.
Piramanayagam, S.
Anand, V.
Mohd, Y.
Park, S.
Teijido, O.
Carril, J. C.
Cacabelos, P.
Keshavarao, S.
Cacabelos, R.
Keywords: Enfermedades musculares
Niños
Bioquímica médica
Citología
India
Publisher: Universidad Continental
Issue Date: 2017
Date available: 7-Jul-2020
Creation date: 2017
Bibliographic citation: Meyyazhagan, A., Raman, N., Easwaran, M., Balasubramanian, B., Alagamuthu, K., Bhotla, H., Shanmugam, S., Inbaraj, K., Kumar, M., Kumar, P., Thangamani, L., Piramanayagam, S., Anand, V., Mohd, Y., Park, S., Teijido, O., Carril, J., Cacabelos, P., Keshavarao, S., Cacabelos, R. (2017). Biochemistry, cytogenetics and DMD gene mutations in South Indian patients with duchenne muscular dystrophy. International Journal Of Human Genetics, 17(3), 126-134. 10.1080/09723757.2017.1387381
DOI: 10.1080/09723757.2017.1387381
Abstract: Thirty children aged 3-10 years with clinically confirmed or suspected Duchenne Muscular Dystrophy (DMD) were analyzed for chromosomal aberrations using cytological preparations, biochemical changes using enzyme kit protocol, and deletions in the 26 exons of the DMD gene by targeting the mutations at the proximal and distal ‘hot spot’ regions of the dystrophin gene in South Indian patients with DMD. The frequenc y of chromosomal aberrations (both chromosomal and chromatid-type) and serum enzyme levels were significa ntly elevated in DMD subjects as compared to controls. Multiplex PCR assays revealed 27 patients having deletions in the DMD gene located at the distal ‘hot spot’ region. This study suggests that disease progression is directly associated with higher incidence of the deletions at the distal ‘hot spot’ of the DMD gene.
Notes: El texto completo de este trabajo no está disponible en el Repositorio Institucional - Continental por restricciones de la casa editorial donde ha sido publicado.
Included in: https://www.tandfonline.com/doi/abs/10.1080/09723757.2017.1387381
metadata.dc.format.extent: p. 126-134
Access: Restringido
Source: Universidad Continental
Repositorio Institucional - Continental
Appears in Collections:Artículos Científicos

Files in This Item:
There are no files associated with this item.
Show full item record


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.