Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies-Reference-Cited by-同舟云学术

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies

Published:2017-09-12 Issue:4 Volume:85 Page:309-310
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Singh Bharti,Mandal Kausik^ORCID,Lallar Meenakshi,Narayanan Dhanya Lakshmi,Mishra Shivani,Gambhir Poonam Singh,Phadke Shubha R.

Funder

None

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/article/10.1007/s12098-017-2455-5/fulltext.html

Reference5 articles.

1. Grody WW, Deignan JL. Diagnostic molecular genetics. In: Rimoin D, Pyeritz R, Korf B, editors. Emery and Rimoin’s principles and practice of medical genetics. Chapter 23. 6th ed. San Diego: Elsevier Ltd; 2013. p. 1–31.

2. Takeshima Y, Yagi M, Okizuka Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55:379–88.

3. Pegoraro E, Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. Initial Posting. 2000; Last Update: August 30, 2012. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1408/ .

4. Kaplan JC, Hamroun D. Corrigendum to “the 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)”: [neuromuscular disorders volume 25 (2015) 991-1020]. Neuromuscul Disord. 2016;26:330.

5. Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol. 2016;29:621–7.

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