Lookup NU author(s): Dr Ana Topf
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© 2019-IOS Press and the authors. All rights reserved.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.
Author(s): Yis U, Hiz S, Gunes S, Diniz G, Baydan F, Topf A, Sonmezler E, Lochmuller H, Horvath R, Oktay Y
Publication type: Article
Publication status: Published
Journal: Journal of Neuromuscular Diseases
Online publication date: 03/09/2019
Acceptance date: 02/04/2018
ISSN (print): 2214-3599
ISSN (electronic): 2214-3602
Publisher: IOS Press
PubMed id: 31227654
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