Extremely thinning ribs in severe congenital myopathy

Abstract

AbstractA full‐term boy born with global hypotonia, weakness, and respiratory insufficiency was finally diagnosed as X‐linked centronuclear myopathy by whole exome sequencing, with a mutation in the MTM1 gene encoding myotubularin. In addition to the typical phenotypes, the infant had a distinctive feature in his chest x‐ray, extremely thinning ribs. This was presumably due to scarcely antepartum work of breathing and may be an important suggestive indicator for skeletal muscle conditions.