Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, Marta G G de la Banda, Adrien Felter, Emili Inarejos, Anna Codina, Cristina Jou, Monica Roldan, Francesc Palau, Janet Hoenicka, Jordi Pijuan, Carlos Ortez, Jessica Expósito-Escudero, Chantal Durand, Frédérique Nugues, Cecilia Jimenez-Mallebrera, Jaume Colomer, Robert Y Carlier, Hanns Lochmüller, Susana Quijano-Roy, Andres Nascimento
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years...
June 2019: American Journal of Medical Genetics. Part A