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Repositorio Institucional Continental

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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
Bioquímica médica
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.
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metadata.dc.format.extent: p. 126-134
Access: Restringido
Source: Universidad Continental
Repositorio Institucional - Continental
Appears in Collections:Artículos Científicos

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