A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies

The symptoms include proximal and axial muscle weakness, distal hyperlaxity, joint contractures, and critical respiratory insufficiency,which requires assisted ventilation and results in a reduced live expectancy. Moreover, the skin and other connective tissues where collagen VI is abundant are also affected [1, 2]. The collagen VI structural defects are related to mutations of three main genes (COL6A1, COL6A2, and COL6A3, OMIM 254090 and 158810). Thus, the new advances in genome editing tools open the possibility to successfully treat these neuromuscular diseases for the first time. This opportunity, though, comes with important challenges. Beyond the challenges of gene editing, this paper focuses on the challenges arising when trying to formally evaluate the efficiency of the therapeutic approaches in the recovery of the collagen VI microfibrillar network.