Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Uluç Yiş, Semra Hiz, Sezgin Güneş, Gülden Diniz, Figen Baydan, Ana Töpf, Ece Sonmezler, Hanns Lochmüller, Rita Horvath, Yavuz Oktay

OAI: oai:www.repository.cam.ac.uk:1810/295728 • DOI: 10.17863/CAM.42775

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.

Calcium Channels L-Type Child Preschool Female Homozygote Humans Infant Male Muscle Skeletal Mutation Missense Myotonia Congenita Pedigree Phenotype Turkey