Affiliations: [a] Department of Pediatrics, Dokuz Eylül University, School of Medicine, Division of Child Neurology, İzmir, Turkey
| [b] Department of Neonatology, Medical Park Hospital, İzmir, Turkey
| [c] Tepecik Research and Training Hospital, University of Health Sciences, İzmir, Turkey
| [d] John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
| [e] Izmir International Biomedicine and Genom Institute, Dokuz Eylul University, Izmir, Turkey
| [f] Department of Medicine, Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada and Division of Neurology, The Ottawa Hospital, Ottawa, Canada
| [g] Department of Clinical Neurosciences, University of Cambridge School of Clinical, Medicine, Cambridge Biomedical Campus, Cambridge, UK
| [h] Department of Medical Biology, Dokuz Eylul University, Faculty of Medicine, Izmir, Turkey
| [i] Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey
Correspondence to: Uluç Yiş, MD, Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir/Turkey. Tel.: +90 232 4126216; E-mail: [email protected].
Abstract: Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report. Here, we describe a consanguineous family with three affected children, presenting congenital hypotonia, contractures, ophthalmoplegia and respiratory insufficiency, with a novel homozygous mutation in the CACNA1S gene. They also showed cognitive delay, pes equinovarus deformity and neurogenic changes that have not been associated with this myopathy in the previous reports. This report expands the phenotypic spectrum of dihydropyridine receptor congenital myopathy and underscores the importance of whole exome sequencing in early onset neuromuscular disorders.