Article
Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
Neuropediatrics - 1 Aug 2015
Vill Katharina, Kuhn Marius, Gläser Dieter, Walter Maggie C, Müller-Felber Wolfgang
Abstract excerpt
Mutations in the TRPV4 gene, encoding a polymodal Ca(2+) permeable channel, are causative for several human diseases, affecting the skeletal and the peripheral nervous system with highly variable phenotypes. We report on a family with two affected individuals. The father clinically suffered from a classical scapuloperoneal syndrome, while the son presented with a severe neonatal onset with congenital respiratory...
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