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Updated: Jun 12, 2026

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
Published on: April 3, 2021
Dystrobrevin isoform expression in patients with neuromuscular disease
1Department of Paediatrics, Ospedale San Giovanni Bellinzona, Bellinzona, Switzerland. gianpaolo.ramelli@eoc.ch
Objective:
The role of dystrobrevin, a cytoplasmic component of the dystrophin-protein complex, in neuromuscular diseases has not been fully elucidated. This study evaluated the expression of dystrobrevin in patients with different neuromuscular diseases.
Methods:
We compared dystrobrevin isoforms expression in patients with Duchenne and Becker Muscular Dystrophy (DMD and BMD) and patients with other neuromuscular disorders not linked to the dystrophin-associated complex.
Results:
Both, alpha-dystrobrevin-1 and -2 isoforms are markedly reduced in the muscle of patients with dystrophinopathies irrespective of the age at the time of biopsy. Conversely, alpha-dystrobrevin-1 was preserved in Limb Girdle Muscular Dystrophies (LGMD) type 2I patients with altered glycosylation of alpha-dystroglycan and in patients with alterations of alpha-dystroglycan due to defects in extracellular matrix proteins (laminin-alpha2).
Conclusions:
Immunolabeling of dystrobrevin could be a useful marker in the diagnostic of neuromuscular diseases.
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