New genes, functions and biomarkers

We report a 4-year-old male with congenital onset and progressive muscle weakness, feeding difficulties, joint contractures, respiratory insufficiency, ophthalmoparesis, cataracts and seizures.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, K. Chao, R. Kaur, D. Bharucha-Goebel, S. Iannaccone, D. MacArthur, A.R. Foley, M. Schwake, C. B önnemann Source Type: research