Title: | New massive parallel sequencing approach improves the genetic characterization of congenital myopathies |
Journal : | Journal of human genetics, 61, 6 |
Authors: | Oliveira J, Author ; Goncalves A ; Taipa R ; Melo-Pires M ; Oliveira ME ; Costa JL ; Machado JC ; Medeiros E ; Coelho T ; Santos M ; Santos R ; Sousa M |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 497 |
Languages: | English |
Keywords : | beta-tropomyosin related cap disease ; central core disease ; centronuclear myopathy ; congenital fiber type disproportion myopathy ; congenital myopathy ; core and rod myopathy ; DNM2 gene ; genetic diagnosis ; multiminicore disease ; NEB gene ; rod myopathy ; RYR1 gene ; SELENON gene ; sequencing ; TTN gene |
Pubmed / DOI : | DOI : 10.1038/jhg.2016.2 / Pubmed : 26841830 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26841830 |