tory. She had good muscle prowess in her childhood, but was not very active in sport before the onset of her complaints. Her symptoms started approximately 15 years ago with a slowly progressive gait disturbance. It had become difficult to climb stairs and to stay upright. Later in the course, she also noted mild muscle weakness in her shoulder girdle. The physical neurological investigation re...

Editorial As a guest editor for this special issue of Neurology Diseases in the Chinese Medical Journal (English Edition), I am pleased to announce a completion of 19 articles (13 research articles, 4 review papers and 2 case reports) which cover a spectrum of research frontier in neurology diseases for publication in this issue. These articles provide an update on the state of clinical and bas...

The diagnosis of neuromuscular disorders traditionally involved clinical and neurophysiological assessment, pathological evaluation of muscle and/or nerve biopsy and sequential testing of individual genes. Next generation sequencing (NGS) has revolutionised the diagnostic paradigm in genetic disorders, with the capability to capture and sequence genes, the entire exome (1% of the protein coding...

950 VOLUME 18 NUMBER 8 AUGUST 2011 NAture StructurAL & moLecuLAr bIoLogY Loss of genomic integrity is a common hallmark of cancer genomes1. Recent technological advances have led to several large-scale cancer genome profiling studies2–5 that have identified genome-wide patterns of alterations in many cancer samples. Notably, DNA breakpoints in cancer genomes, and also in the genomes of apparent...