sequencing. by Calvo and colleagues will help to calibrate clinicians' expectations regarding the diagnostic use of next-generation possible underscores the challenge of interpreting DNA sequence data for clinical diagnosis. Nevertheless, the study formally proven to be linked to mitochondrial disease. The remaining 50% of patients in whom diagnosis was not mitochondrial disease. An additional ...

kind. I refer to cancer or diseases of the circulation such as strokes, heart attacks, atherosclerosis or pulmonary embolisms. Let me remind you of the 'genetic component' of these commoner diseases. It is now abundantly clear that somatic mutations in specific oncogenes correlate with particular cancers. They are clearly one important factor in the cause of malignancy. And, turning to the circ...

Systemic sclerosis (SSc) is an autoimmune disease characterized by immune abnormalities, vascular obliteration, excessive extracellular matrix deposition, and fibrosis of the skin and/or internal organs. To date, the exact etiology of this complicated disease remains unknown. Over the past few years, however, the role of genetic susceptibility and epigenetic modifications caused by environmenta...

background and aims: charcot marie tooth disease (cmt) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. cmt is a heterogeneous disease and has different clinical symptoms. the prevalence of cmt and involved genes differ in different countries. cmt patients experience considerable sleep problems and a higher risk of decreased quality of life. in this work it was aimed ...

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...