Congenital myopathies 1 – nemaline

Respiratory failure can be the initial presenting feature and is the most common cause of death in patients with nemaline myopathy. Surprisingly, data on respiratory muscle weakness, specifically diaphragm function, is scarce in these patients. Therefore, we performed a comprehensive characterization of respiratory muscle function, including diaphragm function, in patients with different nemaline myopathy mutations. We recruited children and adults with genetically confirmed nemaline myopathy with different mutations in the Netherlands.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: E. van Kleef, C. Ottenheijm, M. Gaytant, W. de Weerd, B. Vosse, B. van Engelen, N. Voermans, J. Doorduin Source Type: research