Article
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Annals of clinical and translational neurology - 1 Aug 2025
Pérez-Vidarte Florencia, Estévez-Arias Berta, Matalonga Leslie, Yubero Delia, Codina Anna, Ortez Carlos, Medina Julita, DeSena DeCabo Lidia, Carrera-García Laura, Expósito-Escudero Jesica, Jou Cristina, Tizzano Eduardo F, Nascimento Andres, Natera-de Benito Daniel
Abstract excerpt
OBJECTIVE: To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. METHODS: A total of 105 individuals with AMC were clinically and genetically evaluated in a single-center study. Participants were stratified...
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