Congenital myopathies – nemaline myopathies
Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in muscle fibres. Approximately 25% of NM cases worldwide are caused by mutations in the skeletal muscle alpha actin gene, ACTA1. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant mutation in ACTA1 (c.553C>A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes.
Source: Neuromuscular Disorders - Category: Neurology Authors: J. Clayton, C. Scriba, N. Romero, E. Malfatti, S. Saker, T. Larmonier, K. Nowak, G. Ravenscroft, N. Laing, R. Taylor Source Type: research