Congenital myopathies

We performed exome sequencing panel analysis including 43 genes in a cohort of 87 patients with diagnoses of congenital myopathy (CM), muscular dystrophy, or cardiomyopathy. Congenital myopathies are characterized by generalized muscle hypotonia and weakness of varying severity usually beginning at birth. Myopathies cannot be definitely distinguished from each other nor from other congenital muscle disorders on clinical grounds alone; diagnosis depends on characteristic muscle biopsy findings. Cardiomyopathy can present in varied phenotypes including dilated, hypertrophic, and restrictive patterns.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: M. Marttila, V. Gupta, Ö. Birsoy, S. Amr, B. Funke, H. Hynes, C. Genetti, L. Swanson, P. Agrawal, H. Rehm, A. Beggs Source Type: research