Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort-Reference-Cited by-同舟云学术

Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

Published:2019-05-28 Issue:9 Volume:266 Page:2177-2185
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Polavarapu Kiran,Preethish-Kumar Veeramani,Sekar Deepha,Vengalil Seena,Nashi Saraswati,Mahajan Niranjan P.,Thomas Priya Treesa,Sadasivan Arun,Warrier Manjusha,Gupta Anupam,Arunachal Gautham,Debnath Monojit,Keerthipriya Muddasu Suhasini,Pradeep-Chandra-Reddy Chevula,Puttegowda Arpitha,John Anu P.,Tavvala Ajitha,Gunasekaran Swetha,Sathyaprabha Talakad N.,Chandra Sadanandavalli Retnaswami,Kramer Boris,Delhaas Tammo,Nalini Atchayaram

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-019-09380-3.pdf

Reference32 articles.

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2. Tennyson CN, Klamut HJ, Worton RG (1995) The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet 9:184–190. https://doi.org/10.1038/ng0295-184

3. Koenig M, Beggs AH, Moyer M et al (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45:498–506

4. Aartsma-Rus A, Ginjaar IB, Bushby K (2016) The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet 53:145–151. https://doi.org/10.1136/jmedgenet-2015-103387

5. Lalic T, Vossen RHAM, Coffa J et al (2005) Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 13:1231–1234. https://doi.org/10.1038/sj.ejhg.5201465

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