RNA-seq for the diagnosis of inherited myopathies: a pilot study (S54.002)

Conclusions:RNA-seq holds promise as an adjunct to panel sequencing in the diagnosis of inherited myopathies by identifying mutations affecting splicing and expression of known myopathy genes and by identifying novel mutations in genes not previously known to cause muscle disease.Study Supported by:This work was made possible by funding from the Fondation GO, the McGill University department of Pathology, the Montreal Neurological Institute, the Canadian Institutes of Health Research and the Fonds de recherche du Québec – Santé.S. Nicolau and M. Tetreault contributed equally to this work as first authors.Disclosure: Dr. Nicolau has nothing to disclose. Dr. Tetreault has nothing to disclose. Dr. Choquet has nothing to disclose. Dr. Shao has nothing to disclose. Dr. O'Ferrall has nothing to disclose. Dr. Bareke has nothing to disclose. Dr. Majewski has nothing to disclose. Dr. Brais has nothing to disclose. Dr. Karamchandani has nothing to disclose.

Source: Neurology - April 17, 2017 Category: Neurology Authors: Nicolau, S., Tetreault, M., Choquet, K., Shao, Y.-H., OFerrall, E. K., Bareke, E., Majewski, J., Brais, B., Karamchandani, J. Tags: Motor Neuron Disease and Myopathies Source Type: research