Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing - Next Generation Sequencing Technologies in Medical Genetics - page 60

Wang CH, Bonnemann CG, Rutkowski A et al (2010) Consensus statement on standard of care for
congenital muscular dystrophies. J Child Neurol 25:1559-1581. doi: 10.1177/0883073810381924
Wheeler DA, Srinivasan M, Egholm M et al (2008) The complete genome of an individual by mas-
sively parallel DNA sequencing. Nature 452:872-876. doi: 10.1038/nature06884
Xie S, Lan Z, Qu N et al (2012) Detection of truncated dystrophin lacking the C-terminal domain
in a Chinese pedigree by next-generation sequencing. Gene 499:139-142. doi:10.1016/j.gene.
2012.03.029