β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy

Deficiency of the enzyme β‐galactosidase due to variants in the GLB1‐gene is associated with metabolic disorders: Morquio B and GM1‐gangliosidosis. Here, we report a case compound heterozygous for variants in the GLB1‐gene and a severe muscular phenotype. Full body T1‐w MRI was conducted for muscula...

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Detalles Bibliográficos
Autores principales: Pedersen, Jonas Jalili, Duno, Morten, Wibrand, Flemming, Hammer, Christian, Krag, Thomas, Vissing, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626661/
https://www.ncbi.nlm.nih.gov/pubmed/36341176
http://dx.doi.org/10.1002/jmd2.12324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626661/
https://www.ncbi.nlm.nih.gov/pubmed/36341176
http://dx.doi.org/10.1002/jmd2.12324

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