Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants

Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been...

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Detalles Bibliográficos
Autores principales: Eurich, Benjamin, Nitsche, Catharina, Lau, Margot, Hanker, Britta, Spiegler, Juliane, Stichtenoth, Guido
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221880/
https://www.ncbi.nlm.nih.gov/pubmed/35740734
http://dx.doi.org/10.3390/children9060797

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221880/
https://www.ncbi.nlm.nih.gov/pubmed/35740734
http://dx.doi.org/10.3390/children9060797

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