HIGHLIGHTS
- who: Pitcha Chompoopong and Margherita Milone from the Department of Neurology, Division of Neuromuscular Medicine, Mayo Clinic, Rochester, MN, USA have published the research work: GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders, in the Journal: Genes 2023, 14, 372. of /2023/
SUMMARY
Dystroglycanopathies are a group of clinically and genetically heterogeneous muscular dystrophies caused by mutations that lead to a defect in α-dystroglycan (α-DG). Primary dystroglycanopathy is a very rare limb-girdle muscular dystrophy caused by a mutation in the DAG1 gene, which encodes the dystrophin-associated glycoprotein 1. Most dystroglycanopathies are due . . .
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