Expanding the Phenotype of B3GALNT2-Related Disorders

Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical...

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Detalles Bibliográficos
Autores principales: D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024883/
https://www.ncbi.nlm.nih.gov/pubmed/35456500
http://dx.doi.org/10.3390/genes13040694

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024883/
https://www.ncbi.nlm.nih.gov/pubmed/35456500
http://dx.doi.org/10.3390/genes13040694

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