Congenital muscular dystrophies

Integrin α7 encoded by ITGA7 is highly expressed in skeletal and cardiac muscle and contributes to sarcolemmal stability by binding to laminin α2. Three unrelated patients were previously reported with ITGA7-linked congenital muscular dystrophy. Here, we report three patients from two unrelated families pr esenting with adult-onset cardiac arrhythmia and respiratory weakness due to recessive null mutations in ITGA7. Patient I, a 51-year-old male presented with delayed motor milestones, stridor since birth, cardiac arrhythmia (frequent ventricular ectopy, non-sustained ventricular tachycardia and prema ture conduction disease) requiring ICD at 46 years.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: E. Bugiardini, R. Phadke, R. Maas, A. Pittman, B. Kusters, J. Morrow, M. Parton, A. Nunes, M. Akhtar, P. Syrris, L. Lopes, T. Fotelonga, H. Houlden, P. Elliott, M. Hanna, J. Raaphorst, D. Burkin, E. Matthews Source Type: research