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

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

Abstract 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 fo...

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Bibliographic Details
Main Authors: Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, Christian Hammer, Thomas Krag, John Vissing
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:JIMD Reports
Subjects:
fat replacement
GLB1‐related disorders
metabolic neuromuscular disorder
Morquio B
muscle wasting
myopathy
Online Access:https://doi.org/10.1002/jmd2.12324

Internet

https://doi.org/10.1002/jmd2.12324

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