Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
This study provides a detailed phenotypic and genetic characterization of neuromuscular AMC, highlighting the most frequently affected genes and their associated phenotypes. The findings underscore the challenges in diagnosing a significant proportion of cases, especially within the neurogenic subgroup, and emphasize the importance of integrating detailed phenotypic data with genetic analysis to enhance diagnosis, prognosis, and management of family expectations.
Authors
- Laura Carrera‐García (ORCID: https://orcid.org/0000-0003-4762-7591)
- J. Expósito (ORCID: https://orcid.org/0000-0002-6233-823X)
- Dèlia Yubero (ORCID: https://orcid.org/0000-0001-7742-0589)
- C. Ortez (ORCID: https://orcid.org/0000-0001-8187-8103)
- Berta Estévez‐Arias (ORCID: https://orcid.org/0000-0002-1711-7489)
- A. Nascimento (ORCID: https://orcid.org/0000-0003-4952-5732)
- Eduardo F. Tizzano (ORCID: https://orcid.org/0000-0002-7116-6310)
- Daniel Natera‐de Benito (ORCID: https://orcid.org/0000-0001-7764-2085)
- Cristina Jou (ORCID: https://orcid.org/0000-0002-2223-7880)
- Julita Medina
- Anna Codina (ORCID: https://orcid.org/0000-0003-0673-9087)
- Florencia Pérez‐Vidarte
- Lidia DeSena DeCabo
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Instituto de Salud Carlos III (ES)
- Vall d'Hebron Institut de Recerca (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Sant Joan de Déu Research Foundation (ES)
- Centro Nacional de Análisis Genómico (ES)
- Institut de Recerca Sant Joan de Déu
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-05-29
- DOI
- https://doi.org/10.1002/acn3.70088
- Citations
- 1
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.63
Funders
- Natera
- European Commission
- Generalitat de Catalunya
- Instituto de Salud Carlos III