Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

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...

Topics

• Adolescent
• Arthrogryposis
• Disease Progression
• Heredodegenerative Disorders, Nervous System
• Humans
• Male
• Middle Aged
• Muscular Atrophy, Spinal
• Mutation
• TRPV Cation Channels