Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report

BACKGROUND: Ullrich congenital muscular dystrophy (UCMD) is one of the collagen-VI-related myopathies caused by mutations of COL6A1, COL6A2, and COL6A3 genes. Affected individuals are characterized by muscle weakness, proximal joint contracture, distal joint hyperlaxity, and progressive respiratory...

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Detalles Bibliográficos
Autores principales: Hu, Jun, Chen, Yan-Hui, Fang, Xin, Zhou, Yu, Chen, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727282/
https://www.ncbi.nlm.nih.gov/pubmed/35071537
http://dx.doi.org/10.12998/wjcc.v10.i1.338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727282/
https://www.ncbi.nlm.nih.gov/pubmed/35071537
http://dx.doi.org/10.12998/wjcc.v10.i1.338

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